Variant report

Variant	nsv894431
Chromosome Location	chr9:139522101-139642961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6830)
CpG islands
(count:6720)
Chromatin interactive
region (count:410)
LncRNA
region (count:33)
Mature miRNA
region (count: 4)
miRNA target
sites (count:1)

(count:6830 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139567438-139567815	K562	blood:	n/a	n/a
2	ARID3A	chr9:139622231-139622835	K562	blood:	n/a	n/a
3	ARID3A	chr9:139566182-139566290	K562	blood:	n/a	n/a
4	ARID3A	chr9:139622510-139622835	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:139557182-139557492	K562	blood:	n/a	n/a
6	ARID3A	chr9:139588687-139588969	K562	blood:	n/a	n/a
7	ARID3A	chr9:139591698-139591784	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:139592479-139592744	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:139605746-139606113	K562	blood:	n/a	n/a
10	ARID3A	chr9:139620169-139620430	K562	blood:	n/a	n/a
11	ARID3A	chr9:139541010-139541131	K562	blood:	n/a	n/a
12	ARID3A	chr9:139588673-139589012	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:139621177-139621613	K562	blood:	n/a	n/a
14	ATF1	chr9:139622456-139622833	K562	blood:	n/a	n/a
15	ATF1	chr9:139567401-139567820	K562	blood:	n/a	n/a
16	ATF2	chr9:139621709-139622343	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr9:139595384-139596204	GM12878	blood:	n/a	n/a
18	ATF2	chr9:139582772-139583066	GM12878	blood:	n/a	n/a
19	ATF2	chr9:139525628-139526217	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr9:139621008-139621335	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr9:139622392-139622918	GM12878	blood:	n/a	n/a
22	ATF2	chr9:139622421-139622825	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr9:139622426-139622791	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr9:139620156-139620396	K562	blood:	n/a	n/a
25	ATF3	chr9:139588264-139588956	K562	blood:	n/a	n/a
26	ATF3	chr9:139622458-139622785	H1-hESC	embryonic stem cell:	n/a	chr9:139622742-139622751
27	ATF3	chr9:139538894-139539181	K562	blood:	n/a	n/a
28	ATF3	chr9:139605627-139606071	K562	blood:	n/a	n/a
29	ATF3	chr9:139620186-139620392	K562	blood:	n/a	n/a
30	ATF3	chr9:139617928-139618366	A549	lung:	n/a	n/a
31	ATF3	chr9:139635433-139635724	HepG2	liver:	n/a	n/a
32	ATF3	chr9:139588328-139588605	K562	blood:	n/a	n/a
33	ATF3	chr9:139622451-139622825	K562	blood:	n/a	chr9:139622742-139622751
34	ATF3	chr9:139621749-139622898	A549	lung:	n/a	chr9:139622868-139622877 chr9:139622742-139622751
35	ATF3	chr9:139588500-139588919	A549	lung:	n/a	n/a
36	ATF3	chr9:139622450-139622852	HepG2	liver:	n/a	chr9:139622742-139622751
37	ATF3	chr9:139622440-139622887	K562	blood:	n/a	chr9:139622868-139622877 chr9:139622742-139622751
38	ATF3	chr9:139622461-139622893	GM12878	blood:	n/a	chr9:139622868-139622877 chr9:139622742-139622751
39	ATF3	chr9:139622445-139622932	H1-hESC	embryonic stem cell:	n/a	chr9:139622868-139622877 chr9:139622742-139622751
40	ATF3	chr9:139622350-139622975	A549	lung:	n/a	chr9:139622868-139622877 chr9:139622742-139622751
41	ATF3	chr9:139621172-139621452	K562	blood:	n/a	n/a
42	BACH1	chr9:139588846-139589005	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr9:139621249-139621434	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr9:139622548-139623161	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr9:139606069-139606808	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr9:139622457-139623032	K562	blood:	n/a	n/a
47	BACH1	chr9:139538896-139539237	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr9:139567480-139567522	K562	blood:	n/a	n/a
49	BACH1	chr9:139581569-139581846	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr9:139563510-139563638	K562	blood:	n/a	n/a

(count:6720 , 50 per page) page: 1 2 3 4 5 6 7 ... 135

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139591234-139591284	HCM	heart:	n/a
2	chr9:139632839-139632889	MCF-7	breast:	n/a
3	chr9:139557460-139557510	GM19239	blood:	n/a
4	chr9:139580482-139580532	HEK293	kidney:	embryo
5	chr9:139580799-139580849	BJ	skin:	n/a
6	chr9:139622468-139622518	HNPCEpiC	eye:	n/a
7	chr9:139593588-139593638	GM06990	blood:	n/a
8	chr9:139571632-139571682	AG09319	gingival:	n/a
9	chr9:139588516-139588566	PFSK-1	brain:	n/a
10	chr9:139611158-139611208	HPAEpiC	pulmonary alveolar:	n/a
11	chr9:139591234-139591284	HCM	heart:	n/a
12	chr9:139632839-139632889	MCF-7	breast:	n/a
13	chr9:139557460-139557510	GM19239	blood:	n/a
14	chr9:139580482-139580532	HEK293	kidney:	embryo
15	chr9:139580799-139580849	BJ	skin:	n/a
16	chr9:139622468-139622518	HNPCEpiC	eye:	n/a
17	chr9:139593588-139593638	GM06990	blood:	n/a
18	chr9:139571632-139571682	AG09319	gingival:	n/a
19	chr9:139588516-139588566	PFSK-1	brain:	n/a
20	chr9:139611158-139611208	HPAEpiC	pulmonary alveolar:	n/a
21	chr9:139640884-139640934	Hepatocyte	liver:	n/a
22	chr9:139637526-139637576	H1-hESC	embryonic stem cell:	embryo
23	chr9:139636616-139636666	HPAEpiC	pulmonary alveolar:	n/a
24	chr9:139586159-139586209	HPAEpiC	pulmonary alveolar:	n/a
25	chr9:139593588-139593638	NT2-D1	testis:	n/a
26	chr9:139565151-139565201	HRPEpiC	eye:	n/a
27	chr9:139607602-139607652	Hepatocyte	liver:	n/a
28	chr9:139559772-139559822	A549	lung:	n/a
29	chr9:139615215-139615265	PANC-1	pancreas:	n/a
30	chr9:139547624-139547674	LNCaP	prostate:	n/a
31	chr9:139617442-139617492	AG04450	lung:	fetal
32	chr9:139549756-139549806	GM12891	blood:	n/a
33	chr9:139526158-139526208	GM12891	blood:	n/a
34	chr9:139622468-139622518	HAEpiC	amniotic membrane:	n/a
35	chr9:139588064-139588114	AG09319	gingival:	n/a
36	chr9:139606200-139606250	ovcar-3	ovarian:	n/a
37	chr9:139571632-139571682	RPTEC	kidney:	n/a
38	chr9:139563832-139563882	GM19239	blood:	n/a
39	chr9:139540822-139540872	Caco-2	colon:	n/a
40	chr9:139640661-139640711	HCF	heart:	n/a
41	chr9:139606200-139606250	HMEC	breast:	n/a
42	chr9:139587912-139587962	Hela-S3	cervix:	n/a
43	chr9:139553210-139553260	PANC-1	pancreas:	n/a
44	chr9:139580482-139580532	HepG2	liver:	n/a
45	chr9:139549756-139549806	AG04450	lung:	fetal
46	chr9:139556554-139556604	SAEC	small airway:	n/a
47	chr9:139560975-139561025	HIPEpiC	eye:	n/a
48	chr9:139640325-139640375	AG04450	lung:	fetal
49	chr9:139551219-139551269	HMEC	breast:	n/a
50	chr9:139546555-139546605	HRPEpiC	eye:	n/a

(count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr9:139441673..139444182-chr9:139521515..139523481,2	MCF-7	breast:
2	chr9:139387553..139390422-chr9:139521274..139524054,2	K562	blood:
3	chr9:139561862..139564559-chr9:139744063..139745866,2	K562	blood:
4	chr9:139373617..139381126-chr9:139556058..139563170,11	K562	blood:
5	chr17:42976345..42976863-chr9:139622579..139623081,2	Hela-S3	cervix:
6	chr16:28891737..28894726-chr9:139618768..139620375,2	K562	blood:
7	chr9:139575849..139578208-chr9:139615843..139618376,2	MCF-7	breast:
8	chr16:29985133..29985823-chr9:139622109..139622755,2	Hela-S3	cervix:
9	chr9:139559252..139566873-chr9:139615343..139623790,23	MCF-7	breast:
10	chr9:139538999..139540517-chr9:139581714..139583621,2	K562	blood:
11	chr9:139621075..139623507-chr9:139837293..139839645,2	K562	blood:
12	chr9:139375867..139378354-chr9:139538903..139542048,5	K562	blood:
13	chr9:139376618..139380534-chr9:139580377..139583591,6	MCF-7	breast:
14	chr9:139526442..139528544-chr9:139540829..139543136,2	K562	blood:
15	chr9:139381371..139383958-chr9:139523630..139526469,25	MCF-7	breast:
16	chr15:67546551..67547546-chr9:139577715..139578231,2	Hela-S3	cervix:
17	chr9:139534058..139535957-chr9:139540001..139542413,2	K562	blood:
18	chr9:139306917..139309848-chr9:139622681..139624301,2	K562	blood:
19	chr9:139377192..139379624-chr9:139548301..139550124,2	MCF-7	breast:
20	chr9:139570497..139595051-chr9:139610806..139626266,85	MCF-7	breast:
21	chr9:139379156..139379704-chr9:139525599..139526106,2	MCF-7	breast:
22	chr9:139614007..139616521-chr9:139774313..139776495,2	MCF-7	breast:
23	chr9:139565568..139568143-chr9:139617533..139619099,2	MCF-7	breast:
24	chr9:139217716..139219552-chr9:139576842..139579833,2	K562	blood:
25	chr9:139525513..139526182-chr9:139588260..139589025,2	MCF-7	breast:
26	chr9:139573496..139585443-chr9:139619265..139623221,16	MCF-7	breast:
27	chr9:139620315..139626197-chr9:139646581..139660029,24	MCF-7	breast:
28	chr7:100026327..100026894-chr9:139622595..139623168,2	Hela-S3	cervix:
29	chr9:139594157..139596092-chr9:139599273..139602131,2	MCF-7	breast:
30	chr9:139567290..139569297-chr9:139613042..139615385,2	MCF-7	breast:
31	chr9:139377399..139379654-chr9:139614887..139617974,3	MCF-7	breast:
32	chr9:139358837..139361677-chr9:139576439..139578863,2	K562	blood:
33	chr9:139551112..139553180-chr9:139558385..139561012,2	MCF-7	breast:
34	chr9:139619294..139624280-chr9:139740511..139747015,10	K562	blood:
35	chr9:139534058..139535957-chr9:139540001..139542413,2	K562	blood:
36	chr9:139256756..139259439-chr9:139558798..139561168,3	K562	blood:
37	chr9:139377760..139383087-chr9:139535464..139541086,9	MCF-7	breast:
38	chr9:139522242..139524211-chr9:139568646..139570349,2	K562	blood:
39	chr15:91498030..91498603-chr9:139581519..139582121,2	Hela-S3	cervix:
40	chr9:139436853..139441507-chr9:139558206..139563750,8	K562	blood:
41	chr19:49956664..49957199-chr9:139622142..139623052,2	NB4	blood:
42	chr17:2206662..2208258-chr9:139560186..139563169,2	MCF-7	breast:
43	chr9:139375434..139389563-chr9:139510424..139527760,57	MCF-7	breast:
44	chr9:139622265..139623955-chr9:140133770..140135800,2	K562	blood:
45	chr9:139533401..139535881-chr9:139579337..139581621,2	K562	blood:
46	chr9:139394473..139398215-chr9:139525489..139528132,3	K562	blood:
47	chr9:139635265..139637376-chr9:139701169..139703392,2	MCF-7	breast:
48	chr9:139559979..139565136-chr9:139614649..139620376,8	MCF-7	breast:
49	chr9:139292999..139296211-chr9:139525754..139527432,3	MCF-7	breast:
50	chr9:139552484..139555423-chr9:139558985..139561771,2	MCF-7	breast:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCN6-1	chr9:139620756-139620988	NONHSAT135578
2	lnc-FAM69B-2	chr9:139591865-139592053	NONHSAT135573
3	lnc-EGFL7-1	chr9:139543124-139543531	XLOC_007615
4	lnc-AGPAT2-1	chr9:139543130-139543517	NONHSAT135568
5	lnc-EGFL7-1	chr9:139543150-139543517	XLOC_007615
6	lnc-EGFL7-1	chr9:139547848-139548891	XLOC_007615
7	lnc-LCN6-1	chr9:139619507-139619562	NONHSAT135579
8	lnc-EGFL7-1	chr9:139543111-139543531	NONHSAT135566
9	lnc-EGFL7-1	chr9:139541827-139541996	XLOC_007615
10	lnc-AGPAT2-1	chr9:139554777-139554801	NONHSAT135568
11	lnc-FAM69B-3	chr9:139641530-139643024	NONHSAT135592
12	lnc-LCN6-1	chr9:139620756-139620988	NONHSAT135579
13	lnc-EGFL7-1	chr9:139547848-139547858	XLOC_007615
14	lnc-LCN6-1	chr9:139619048-139619391	NONHSAT135579
15	lnc-EGFL7-1	chr9:139543150-139543531	XLOC_007615
16	lnc-AGPAT2-1	chr9:139554773-139554873	ENSG00000228401.3
17	lnc-EGFL7-1	chr9:139547848-139547970	NONHSAT135566
18	lnc-FAM69B-3	chr9:139640613-139640653	NONHSAT135592
19	lnc-AGPAT2-1	chr9:139554773-139554873	ENSG00000228401.2
20	lnc-LCN6-1	chr9:139620763-139620935	ENSG00000233016.1
21	lnc-FAM69B-2	chr9:139593083-139593379	NONHSAT135573
22	lnc-LCN6-1	chr9:139619048-139619562	NONHSAT135578
23	lnc-AGPAT2-1	chr9:139543062-139543517	ENSG00000228401.2
24	lnc-EGFL7-1	chr9:139548146-139548533	XLOC_007615
25	lnc-EGFL7-1	chr9:139543085-139543531	XLOC_007615
26	lnc-AGPAT2-1	chr9:139543292-139543517	ENSG00000228401.3
27	lnc-EGFL7-1	chr9:139548146-139548550	NONHSAT135566
28	lnc-EGFL7-1	chr9:139541958-139541996	XLOC_007615
29	lnc-LCN6-1	chr9:139619112-139619391	ENSG00000233016.1
30	lnc-LCN6-1	chr9:139619507-139619562	ENSG00000233016.1
31	lnc-LCN6-3	chr9:139612032-139612646	NONHSAT135574
32	lnc-AGPAT2-1	chr9:139543174-139543287	ENSG00000228401.3
33	lnc-LCN6-3	chr9:139612719-139613223	NONHSAT135574

miRNA name	Chromosome Location	mirBase accession
hsa-miR-126-5p	chr9:139565068-139565088	MIMAT0000444
hsa-miR-6722-5p	chr9:139641393-139641412	MIMAT0025853
hsa-miR-6722-3p	chr9:139641355-139641376	MIMAT0025854
hsa-miR-126-3p	chr9:139565105-139565126	MIMAT0000445

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	EGFL7	hsa-miR-126-3p	chr9:139567013-139567019

Variant related genes	Relation type
FAM69B	TF binding region
EGFL7	TF binding region
SNHG7	TF binding region
LCN6	TF binding region
ENSG00000228401	TF binding region
MIR126	TF binding region
AGPAT2	TF binding region
LCN10	TF binding region
ENSG00000221693	TF binding region
ENSG00000204003	TF binding region
FAM69B	CpG island
EGFL7	CpG island
SNHG7	CpG island
LCN6	CpG island
ENSG00000228401	CpG island
MIR126	CpG island
AGPAT2	CpG island
LCN10	CpG island
ENSG00000221693	CpG island
ENSG00000204003	CpG island
ENSG00000244187	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000164620	chromatin interactions
ENSG00000266507	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000112984	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000272679	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000176101	chromatin interactions
ENSG00000167131	chromatin interactions
ENSG00000187922	chromatin interactions
ENSG00000263697	chromatin interactions
ENSG00000261793	chromatin interactions
ENSG00000265134	chromatin interactions
ENSG00000176248	chromatin interactions
ENSG00000261716	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000165355	chromatin interactions
ENSG00000103591	chromatin interactions
ENSG00000139437	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000169692	chromatin interactions
ENSG00000172889	chromatin interactions
ENSG00000232019	chromatin interactions
ENSG00000160360	chromatin interactions
ENSG00000148384	chromatin interactions
ENSG00000027644	chromatin interactions
ENSG00000252440	chromatin interactions
ENSG00000085832	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000108883	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000227512	chromatin interactions
ENSG00000228401	chromatin interactions
ENSG00000268996	chromatin interactions
ENSG00000199161	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000236394	chromatin interactions
ENSG00000165689	chromatin interactions
ENSG00000119396	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000265806	chromatin interactions
ENSG00000152348	chromatin interactions
ENSG00000188747	chromatin interactions
ENSG00000221693	chromatin interactions
ENSG00000196366	chromatin interactions
ENSG00000171720	chromatin interactions
ENSG00000177239	chromatin interactions
ENSG00000104872	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000204003	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000103599	chromatin interactions
ENSG00000167720	chromatin interactions
ENSG00000187609	chromatin interactions
ENSG00000213212	chromatin interactions
ENSG00000070366	chromatin interactions
ENSG00000184709	chromatin interactions
ENSG00000107223	chromatin interactions
ENSG00000165716	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000112983	chromatin interactions
ENSG00000054179	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000273066	chromatin interactions
ENSG00000258384	chromatin interactions
ENSG00000263403	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000142864	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000148396	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000105193	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000252461	chromatin interactions
ENSG00000136279	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000265181	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000149930	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000107281	chromatin interactions
ENSG00000079616	chromatin interactions
ENSG00000267206	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000131323	chromatin interactions
ENSG00000082641	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000057663	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000187796	chromatin interactions
ENSG00000196235	chromatin interactions
ENSG00000165516	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000165688	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000165684	chromatin interactions
ENSG00000213221	chromatin interactions
ENSG00000240661	chromatin interactions
ENSG00000161960	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000163428	chromatin interactions
ENSG00000237886	chromatin interactions
ENSG00000185863	chromatin interactions
ENSG00000204001	chromatin interactions
ENSG00000148400	chromatin interactions
ENSG00000177984	chromatin interactions
SPRED1	Mature miRNA region
CCNE2	Mature miRNA region
DNMT1	Mature miRNA region
TEK	Mature miRNA region
CRK	Mature miRNA region
TWF1	Mature miRNA region
SOX2	Mature miRNA region
RGS3	Mature miRNA region
ADAM9	Mature miRNA region
KRAS	Mature miRNA region
IRS1	Mature miRNA region
PTPN7	Mature miRNA region
CXCL12	Mature miRNA region
MERTK	Mature miRNA region
E2F1	Mature miRNA region
CSGALNACT1	Mature miRNA region
SLC7A5	Mature miRNA region
VCAM1	Mature miRNA region
HOXA9	Mature miRNA region
VEGFA	Mature miRNA region
TWF2	Mature miRNA region
PGR	Mature miRNA region
RBMX	Mature miRNA region
SLC45A3	Mature miRNA region
PLK2	Mature miRNA region
MMP7	Mature miRNA region
EGFL7	Mature miRNA region
IGFBP2	Mature miRNA region
PITPNC1	Mature miRNA region
PIK3R2	Mature miRNA region
TOM1	Mature miRNA region
UNK	miRNA target sites
ITSN2	miRNA target sites

Extended variants
information (count: 6330 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:6330 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs914737	chr9:139522101-139522102	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs139237465	chr9:139522178-139522179	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs191995095	chr9:139522179-139522180	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs577042986	chr9:139522190-139522191	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs545810803	chr9:139522193-139522194	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs570951704	chr9:139522200-139522201	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs539271261	chr9:139522208-139522209	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs541873395	chr9:139522211-139522212	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs561854781	chr9:139522217-139522218	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs527822520	chr9:139522237-139522238	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs184455131	chr9:139522238-139522239	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs113662621	chr9:139522299-139522300	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs533661867	chr9:139522320-139522321	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs530422185	chr9:139522325-139522326	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs376842322	chr9:139522339-139522340	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs568843691	chr9:139522342-139522343	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs116953660	chr9:139522388-139522389	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs76376310	chr9:139522391-139522392	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs568140930	chr9:139522397-139522398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs145617778	chr9:139522413-139522414	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs563422673	chr9:139522424-139522425	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs553914587	chr9:139522425-139522426	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs567338359	chr9:139522433-139522434	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs535687263	chr9:139522435-139522436	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs539689849	chr9:139522453-139522454	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs556040695	chr9:139522486-139522487	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs377461280	chr9:139522506-139522507	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs575987038	chr9:139522508-139522509	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs113299763	chr9:139522565-139522566	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs555899093	chr9:139522586-139522587	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs369807239	chr9:139522619-139522620	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs572481702	chr9:139522711-139522712	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs541202020	chr9:139522712-139522713	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs564669102	chr9:139522729-139522730	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs533363858	chr9:139522730-139522731	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs80031870	chr9:139522735-139522736	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs373678543	chr9:139522787-139522788	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs148915887	chr9:139522792-139522793	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs376131401	chr9:139522800-139522801	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs535292493	chr9:139522805-139522806	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs568008449	chr9:139522806-139522807	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs533847315	chr9:139522829-139522830	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs11145808	chr9:139522892-139522893	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs570599900	chr9:139522910-139522911	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs539265605	chr9:139522915-139522916	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs374011079	chr9:139522920-139522921	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs555975277	chr9:139522947-139522948	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs34981270	chr9:139522962-139522963	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs575910657	chr9:139522972-139522973	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs578103139	chr9:139522974-139522975	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Hepatocellular carcinoma	22174799	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Mantle cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Epilepsy	22083797	CNVD
Cancer	20164920	CNVD
Autism	22549408	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Developmental delay	20877625	CNVD
Hypoplastic	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
Palpebral fissures	20877625	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:5510 , 50 per page) page: 1 2 3 4 5 6 7 ... 111

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139509200-139525200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr9:139509800-139525200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:139511400-139526600	Enhancers	Primary hematopoietic stem cells	blood
4	chr9:139514400-139526600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:139514800-139526600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr9:139515000-139522200	Enhancers	Esophagus	oesophagus
7	chr9:139515000-139526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:139515800-139526000	Enhancers	Placenta	Placenta
9	chr9:139517200-139524400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr9:139517800-139522200	Enhancers	A549	lung
11	chr9:139518000-139522200	Enhancers	Adipose Nuclei	Adipose
12	chr9:139518000-139522200	Enhancers	Right Ventricle	heart
13	chr9:139518000-139522400	Enhancers	Lung	lung
14	chr9:139518000-139523600	Enhancers	Fetal Stomach	stomach
15	chr9:139518000-139526400	Enhancers	Liver	Liver
16	chr9:139518200-139522600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr9:139518200-139522600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr9:139518200-139526000	Enhancers	Pancreas	Pancrea
19	chr9:139518400-139522400	Enhancers	Dnd41	blood
20	chr9:139518400-139525200	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr9:139518600-139522600	Enhancers	Fetal Heart	heart
22	chr9:139518800-139525200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:139518800-139526000	Enhancers	Gastric	stomach
24	chr9:139519000-139522400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr9:139520000-139524200	Weak transcription	Primary B cells from cord blood	blood
26	chr9:139520000-139524200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:139520000-139524400	Weak transcription	Brain Germinal Matrix	brain
28	chr9:139520000-139524800	Weak transcription	Fetal Brain Male	brain
29	chr9:139520000-139524800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr9:139520000-139524800	Weak transcription	GM12878-XiMat	blood
31	chr9:139520200-139522200	Enhancers	Colonic Mucosa	Colon
32	chr9:139520200-139522200	Bivalent Enhancer	Fetal Intestine Large	intestine
33	chr9:139520200-139522400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:139520600-139522400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:139520600-139523200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:139520600-139524800	Weak transcription	Brain Substantia Nigra	brain
37	chr9:139520600-139525200	Weak transcription	Brain Anterior Caudate	brain
38	chr9:139520600-139525200	Weak transcription	Hela-S3	cervix
39	chr9:139520800-139525000	Weak transcription	Brain Angular Gyrus	brain
40	chr9:139520800-139525000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:139521000-139524000	Weak transcription	HSMMtube	muscle
42	chr9:139521000-139524200	Weak transcription	Right Atrium	heart
43	chr9:139521000-139524800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:139521000-139524800	Weak transcription	Brain Hippocampus Middle	brain
45	chr9:139521000-139525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:139521000-139525000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr9:139521000-139525200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:139521000-139526400	Enhancers	Spleen	Spleen
49	chr9:139521200-139522200	Enhancers	NHEK	skin
50	chr9:139521200-139522400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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