Variant report

Variant	nsv894419
Chromosome Location	chr9:139487092-139620311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6346)
CpG islands
(count:5619)
Chromatin interactive
region (count:414)
LncRNA
region (count:41)
Mature miRNA
region (count: 2)
miRNA target
sites (count:1)

(count:6346 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139605746-139606113	K562	blood:	n/a	n/a
2	ARID3A	chr9:139557182-139557492	K562	blood:	n/a	n/a
3	ARID3A	chr9:139588673-139589012	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:139620169-139620430	K562	blood:	n/a	n/a
5	ARID3A	chr9:139591698-139591784	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:139508858-139509087	K562	blood:	n/a	n/a
7	ARID3A	chr9:139541010-139541131	K562	blood:	n/a	n/a
8	ARID3A	chr9:139521170-139521415	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:139588687-139588969	K562	blood:	n/a	n/a
10	ARID3A	chr9:139566182-139566290	K562	blood:	n/a	n/a
11	ARID3A	chr9:139592479-139592744	HepG2	liver:	n/a	n/a
12	ARID3A	chr9:139567438-139567815	K562	blood:	n/a	n/a
13	ATF1	chr9:139567401-139567820	K562	blood:	n/a	n/a
14	ATF1	chr9:139508820-139509155	K562	blood:	n/a	n/a
15	ATF2	chr9:139525628-139526217	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr9:139582772-139583066	GM12878	blood:	n/a	n/a
17	ATF2	chr9:139595384-139596204	GM12878	blood:	n/a	n/a
18	ATF3	chr9:139620186-139620392	K562	blood:	n/a	n/a
19	ATF3	chr9:139588264-139588956	K562	blood:	n/a	n/a
20	ATF3	chr9:139605627-139606071	K562	blood:	n/a	n/a
21	ATF3	chr9:139538894-139539181	K562	blood:	n/a	n/a
22	ATF3	chr9:139508832-139509057	K562	blood:	n/a	n/a
23	ATF3	chr9:139617928-139618366	A549	lung:	n/a	n/a
24	ATF3	chr9:139620156-139620396	K562	blood:	n/a	n/a
25	ATF3	chr9:139588500-139588919	A549	lung:	n/a	n/a
26	ATF3	chr9:139508818-139509081	K562	blood:	n/a	n/a
27	ATF3	chr9:139588328-139588605	K562	blood:	n/a	n/a
28	BACH1	chr9:139538896-139539237	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr9:139525815-139526182	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr9:139620277-139620477	K562	blood:	n/a	n/a
31	BACH1	chr9:139524845-139525254	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr9:139606069-139606808	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr9:139582290-139582389	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr9:139527348-139527534	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr9:139581569-139581846	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr9:139606483-139606600	K562	blood:	n/a	n/a
37	BACH1	chr9:139563510-139563638	K562	blood:	n/a	n/a
38	BACH1	chr9:139567480-139567522	K562	blood:	n/a	n/a
39	BACH1	chr9:139588846-139589005	H1-hESC	embryonic stem cell:	n/a	n/a
40	BATF	chr9:139525813-139526117	GM12878	blood:	n/a	n/a
41	BATF	chr9:139582701-139583074	GM12878	blood:	n/a	n/a
42	BATF	chr9:139582682-139583120	GM12878	blood:	n/a	n/a
43	BATF	chr9:139595731-139596084	GM12878	blood:	n/a	n/a
44	BCL11A	chr9:139595781-139596077	GM12878	blood:	n/a	n/a
45	BCL11A	chr9:139595824-139596125	GM12878	blood:	n/a	chr9:139596102-139596115
46	BCL11A	chr9:139582723-139583086	GM12878	blood:	n/a	chr9:139582970-139582983
47	BCL3	chr9:139519626-139519865	GM12878	blood:	n/a	n/a
48	BCL3	chr9:139591730-139592048	GM12878	blood:	n/a	n/a
49	BCL3	chr9:139612765-139614262	A549	lung:	n/a	chr9:139613757-139613766
50	BCL3	chr9:139613578-139614107	A549	lung:	n/a	chr9:139613757-139613766

(count:5619 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139588516-139588566	H1-hESC	embryonic stem cell:	embryo
2	chr9:139582389-139582439	HEK293	kidney:	embryo
3	chr9:139496083-139496133	GM06990	blood:	n/a
4	chr9:139618608-139618658	HCPEpiC	choroid plexus:	n/a
5	chr9:139616233-139616283	SKMC	muscle:	n/a
6	chr9:139565154-139565204	HL-60	blood:	n/a
7	chr9:139553319-139553369	U87	brain:	n/a
8	chr9:139588516-139588566	H1-hESC	embryonic stem cell:	embryo
9	chr9:139582389-139582439	HEK293	kidney:	embryo
10	chr9:139496083-139496133	GM06990	blood:	n/a
11	chr9:139618608-139618658	HCPEpiC	choroid plexus:	n/a
12	chr9:139616233-139616283	SKMC	muscle:	n/a
13	chr9:139565154-139565204	HL-60	blood:	n/a
14	chr9:139553319-139553369	U87	brain:	n/a
15	chr9:139589413-139589463	PANC-1	pancreas:	n/a
16	chr9:139590760-139590810	NT2-D1	testis:	n/a
17	chr9:139617752-139617802	PrEC	prostate:	n/a
18	chr9:139515751-139515801	ovcar-3	ovarian:	n/a
19	chr9:139566734-139566784	HEEpiC	esophagus:	n/a
20	chr9:139547624-139547674	BJ	skin:	n/a
21	chr9:139591234-139591284	U87	brain:	n/a
22	chr9:139546555-139546605	PrEC	prostate:	n/a
23	chr9:139615215-139615265	HUVEC	blood vessel:	n/a
24	chr9:139512327-139512377	SK-N-MC	brain:	n/a
25	chr9:139496844-139496894	MCF-7	breast:	n/a
26	chr9:139557920-139557970	HNPCEpiC	eye:	n/a
27	chr9:139559897-139559947	SKMC	muscle:	n/a
28	chr9:139604168-139604218	GM12878	blood:	n/a
29	chr9:139592589-139592639	NH-A	brain:	n/a
30	chr9:139616233-139616283	HRPEpiC	eye:	n/a
31	chr9:139515751-139515801	PrEC	prostate:	n/a
32	chr9:139590760-139590810	AG09309	skin:	n/a
33	chr9:139596117-139596167	HNPCEpiC	eye:	n/a
34	chr9:139578788-139578838	AG04450	lung:	fetal
35	chr9:139565154-139565204	GM12878	blood:	n/a
36	chr9:139611158-139611208	SKMC	muscle:	n/a
37	chr9:139580482-139580532	AG09319	gingival:	n/a
38	chr9:139519201-139519251	SK-N-MC	brain:	n/a
39	chr9:139559772-139559822	SKMC	muscle:	n/a
40	chr9:139535765-139535815	HEEpiC	esophagus:	n/a
41	chr9:139553319-139553369	HCT-116	colon:	n/a
42	chr9:139552716-139552766	MCF-7	breast:	n/a
43	chr9:139550969-139551019	SK-N-MC	brain:	n/a
44	chr9:139561004-139561054	HCM	heart:	n/a
45	chr9:139508740-139508790	HMEC	breast:	n/a
46	chr9:139565154-139565204	BE2_C	brain:	n/a
47	chr9:139578788-139578838	AoSMC	blood vessel:	n/a
48	chr9:139551219-139551269	T-47D	breast:	n/a
49	chr9:139618608-139618658	AG10803	skin:	n/a
50	chr9:139556554-139556604	NB4	blood:	n/a

(count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr9:139265941..139267636-chr9:139562180..139564334,2	K562	blood:
2	chr9:139216139..139218776-chr9:139501815..139503877,2	MCF-7	breast:
3	chr9:139570497..139595051-chr9:139610806..139626266,85	MCF-7	breast:
4	chr9:139502394..139504082-chr9:139512196..139514032,2	K562	blood:
5	chr9:139501611..139503158-chr9:139518438..139520646,2	K562	blood:
6	chr9:139440052..139440826-chr9:139518510..139519453,2	MCF-7	breast:
7	chr9:139365934..139367778-chr9:139521279..139522852,2	K562	blood:
8	chr17:39844907..39845497-chr9:139581299..139581945,2	Hela-S3	cervix:
9	chr9:139561862..139564559-chr9:139744063..139745866,2	K562	blood:
10	chr9:139618479..139620539-chr9:139889932..139892268,2	K562	blood:
11	chr9:139473030..139475577-chr9:139490582..139493562,2	MCF-7	breast:
12	chr9:139573496..139585443-chr9:139619265..139623221,16	MCF-7	breast:
13	chr9:139303432..139306047-chr9:139547910..139550826,2	K562	blood:
14	chr9:139380083..139384682-chr9:139524916..139528509,8	K562	blood:
15	chr9:139534058..139535957-chr9:139540001..139542413,2	K562	blood:
16	chr9:139293215..139297441-chr9:139523533..139527262,4	MCF-7	breast:
17	chr9:139376345..139381023-chr9:139550184..139554554,6	K562	blood:
18	chr9:139568589..139570894-chr9:139825768..139828118,2	K562	blood:
19	chr9:139303563..139305683-chr9:139607496..139609097,2	K562	blood:
20	chr9:139257597..139259960-chr9:139615423..139617441,2	K562	blood:
21	chr9:139619294..139624280-chr9:139740511..139747015,10	K562	blood:
22	chr9:139377866..139380076-chr9:139520442..139522491,3	K562	blood:
23	chr9:139492040..139493676-chr9:139508222..139510368,2	MCF-7	breast:
24	chr9:139483964..139485915-chr9:139487253..139489371,2	MCF-7	breast:
25	chr9:139496776..139498565-chr9:139620965..139623947,2	K562	blood:
26	chr9:139618562..139620784-chr9:139689004..139691384,2	K562	blood:
27	chr9:139419326..139421336-chr9:139610590..139612744,2	K562	blood:
28	chr9:139589139..139593990-chr9:139595485..139598668,5	MCF-7	breast:
29	chr9:139559252..139566873-chr9:139615343..139623790,23	MCF-7	breast:
30	chr9:139503487..139505131-chr9:139556719..139559147,2	K562	blood:
31	chr9:139376887..139379540-chr9:139566234..139568042,2	K562	blood:
32	chr9:139437478..139438325-chr9:139509440..139509977,3	MCF-7	breast:
33	chr9:139520427..139523114-chr9:139525848..139527950,2	MCF-7	breast:
34	chr9:139468648..139470269-chr9:139520357..139523337,2	K562	blood:
35	chr9:139594157..139596092-chr9:139599273..139602131,2	MCF-7	breast:
36	chr9:139569086..139572014-chr9:139637166..139639125,2	MCF-7	breast:
37	chr9:139369362..139372290-chr9:139537978..139541442,3	K562	blood:
38	chr9:139436171..139441006-chr9:139521615..139524987,4	MCF-7	breast:
39	chr9:139620118..139623932-chr9:139922375..139925511,3	MCF-7	breast:
40	chr9:139302797..139304851-chr9:139539067..139541920,2	MCF-7	breast:
41	chr9:139381082..139382655-chr9:139617602..139619375,2	K562	blood:
42	chr4:10117808..10120085-chr9:139611301..139612978,2	MCF-7	breast:
43	chr9:139525013..139526790-chr9:139538270..139540933,2	K562	blood:
44	chr9:139538177..139541086-chr9:139567134..139569678,3	MCF-7	breast:
45	chr9:139492025..139493954-chr9:139500862..139502504,2	MCF-7	breast:
46	chr9:139383073..139383723-chr9:139524095..139525079,4	K562	blood:
47	chr9:139618735..139620597-chr9:139748089..139749638,2	MCF-7	breast:
48	chr9:139511034..139512901-chr9:139621102..139622798,2	K562	blood:
49	chr9:139565568..139568143-chr9:139617533..139619099,2	MCF-7	breast:
50	chr9:139481783..139484734-chr9:139519456..139521509,3	K562	blood:

(count:41 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EGFL7-1	chr9:139543150-139543531	XLOC_007615
2	lnc-AGPAT2-2	chr9:139506486-139506622	XLOC_007896
3	lnc-EGFL7-1	chr9:139541958-139541996	XLOC_007615
4	lnc-AGPAT2-1	chr9:139543130-139543517	NONHSAT135568
5	lnc-EGFL7-2	chr9:139505192-139505219	XLOC_007614
6	lnc-EGFL7-1	chr9:139543124-139543531	XLOC_007615
7	lnc-LCN6-1	chr9:139619048-139619562	NONHSAT135578
8	lnc-EGFL7-1	chr9:139548146-139548550	NONHSAT135566
9	lnc-EGFL7-1	chr9:139543111-139543531	NONHSAT135566
10	lnc-LCN6-1	chr9:139619048-139619391	NONHSAT135579
11	lnc-AGPAT2-1	chr9:139554777-139554801	NONHSAT135568
12	lnc-AGPAT2-1	chr9:139543062-139543517	ENSG00000228401.2
13	lnc-EGFL7-1	chr9:139543150-139543517	XLOC_007615
14	lnc-EGFL7-2	chr9:139505899-139508134	XLOC_007614
15	lnc-AGPAT2-1	chr9:139543174-139543287	ENSG00000228401.3
16	lnc-AGPAT2-2	chr9:139511530-139511616	XLOC_007896
17	lnc-AGPAT2-2	chr9:139519662-139519693	XLOC_007896
18	lnc-LCN6-1	chr9:139619112-139619391	ENSG00000233016.1
19	lnc-AGPAT2-2	chr9:139509640-139510316	XLOC_007896
20	lnc-LCN6-3	chr9:139612719-139613223	NONHSAT135574
21	lnc-EGFL7-1	chr9:139541827-139541996	XLOC_007615
22	lnc-AGPAT2-1	chr9:139543292-139543517	ENSG00000228401.3
23	lnc-AGPAT2-2	chr9:139507155-139507355	XLOC_007896
24	lnc-LCN6-1	chr9:139619507-139619562	NONHSAT135579
25	lnc-EGFL7-1	chr9:139547848-139548891	XLOC_007615
26	lnc-LCN6-1	chr9:139619507-139619562	ENSG00000233016.1
27	lnc-AGPAT2-2	chr9:139506546-139506622	XLOC_007896
28	lnc-EGFL7-1	chr9:139548146-139548533	XLOC_007615
29	lnc-EGFL7-1	chr9:139543085-139543531	XLOC_007615
30	lnc-AGPAT2-2	chr9:139508216-139508248	XLOC_007896
31	lnc-FAM69B-2	chr9:139591865-139592053	NONHSAT135573
32	lnc-AGPAT2-1	chr9:139554773-139554873	ENSG00000228401.2
33	lnc-LCN6-3	chr9:139612032-139612646	NONHSAT135574
34	lnc-AGPAT2-2	chr9:139510255-139510295	XLOC_007896
35	lnc-FAM69B-2	chr9:139593083-139593379	NONHSAT135573
36	lnc-EGFL7-1	chr9:139547848-139547858	XLOC_007615
37	lnc-AGPAT2-2	chr9:139507155-139507355	XLOC_007896
38	lnc-AGPAT2-1	chr9:139554773-139554873	ENSG00000228401.3
39	lnc-AGPAT2-2	chr9:139506486-139506622	XLOC_007896
40	lnc-AGPAT2-2	chr9:139507155-139507780	XLOC_007896
41	lnc-EGFL7-1	chr9:139547848-139547970	NONHSAT135566

miRNA name	Chromosome Location	mirBase accession
hsa-miR-126-5p	chr9:139565068-139565088	MIMAT0000444
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
ENSG00000228401	TF binding region
MIR126	TF binding region
AGPAT2	TF binding region
ENSG00000252440	TF binding region
ENSG00000221693	TF binding region
FAM69B	CpG island
EGFL7	CpG island
ENSG00000228401	CpG island
MIR126	CpG island
AGPAT2	CpG island
ENSG00000252440	CpG island
ENSG00000221693	CpG island
ENSG00000148396	chromatin interactions
ENSG00000272896	chromatin interactions
ENSG00000272679	chromatin interactions
ENSG00000148400	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000204001	chromatin interactions
ENSG00000177943	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000187922	chromatin interactions
ENSG00000196366	chromatin interactions
ENSG00000148384	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000252461	chromatin interactions
ENSG00000261716	chromatin interactions
ENSG00000172889	chromatin interactions
ENSG00000103591	chromatin interactions
ENSG00000027644	chromatin interactions
ENSG00000188747	chromatin interactions
ENSG00000054148	chromatin interactions
ENSG00000161960	chromatin interactions
ENSG00000196642	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000142864	chromatin interactions
ENSG00000199161	chromatin interactions
ENSG00000213221	chromatin interactions
ENSG00000127191	chromatin interactions
ENSG00000213212	chromatin interactions
ENSG00000265134	chromatin interactions
ENSG00000165688	chromatin interactions
ENSG00000187796	chromatin interactions
ENSG00000187609	chromatin interactions
ENSG00000054179	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000237886	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000236394	chromatin interactions
ENSG00000252440	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000163428	chromatin interactions
ENSG00000165684	chromatin interactions
ENSG00000240661	chromatin interactions
ENSG00000177984	chromatin interactions
ENSG00000232019	chromatin interactions
ENSG00000258384	chromatin interactions
ENSG00000070366	chromatin interactions
ENSG00000085832	chromatin interactions
ENSG00000228544	chromatin interactions
ENSG00000165689	chromatin interactions
ENSG00000131323	chromatin interactions
ENSG00000167720	chromatin interactions
ENSG00000273066	chromatin interactions
ENSG00000263403	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000244187	chromatin interactions
ENSG00000160360	chromatin interactions
ENSG00000267206	chromatin interactions
ENSG00000204003	chromatin interactions
ENSG00000213213	chromatin interactions
ENSG00000103599	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000071127	chromatin interactions
ENSG00000169692	chromatin interactions
ENSG00000165716	chromatin interactions
ENSG00000227512	chromatin interactions
ENSG00000228401	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000166965	chromatin interactions
ENSG00000221693	chromatin interactions
ENSG00000265181	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000148362	chromatin interactions
IGFBP2	Mature miRNA region
TWF2	Mature miRNA region
CCNE2	Mature miRNA region
CXCL12	Mature miRNA region
PIK3R2	Mature miRNA region
CRK	Mature miRNA region
HOXA9	Mature miRNA region
MERTK	Mature miRNA region
TEK	Mature miRNA region
RBMX	Mature miRNA region
ADAM9	Mature miRNA region
PITPNC1	Mature miRNA region
KRAS	Mature miRNA region
DNMT1	Mature miRNA region
PGR	Mature miRNA region
TOM1	Mature miRNA region
SLC7A5	Mature miRNA region
PTPN7	Mature miRNA region
EGFL7	Mature miRNA region
IRS1	Mature miRNA region
VEGFA	Mature miRNA region
RGS3	Mature miRNA region
SPRED1	Mature miRNA region
TWF1	Mature miRNA region
VCAM1	Mature miRNA region
SOX2	Mature miRNA region
MMP7	Mature miRNA region
CSGALNACT1	Mature miRNA region
E2F1	Mature miRNA region
SLC45A3	Mature miRNA region
PLK2	Mature miRNA region
SMC1A	miRNA target sites
SF1	miRNA target sites
FOXRED2	miRNA target sites
UNK	miRNA target sites
ITSN2	miRNA target sites
KLHL24	miRNA target sites

Extended variants
information (count: 6963 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:6963 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4880055	chr9:139487092-139487093	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183920576	chr9:139487119-139487120	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs573311891	chr9:139487138-139487139	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs112028691	chr9:139487148-139487149	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs188345348	chr9:139487156-139487157	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs202002775	chr9:139487168-139487169	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs559130940	chr9:139487183-139487184	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs560004109	chr9:139487237-139487238	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575964722	chr9:139487264-139487265	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7026449	chr9:139487273-139487274	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561609956	chr9:139487276-139487277	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111651484	chr9:139487296-139487297	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs75496404	chr9:139487297-139487298	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12682786	chr9:139487347-139487348	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs140266428	chr9:139487356-139487357	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7030467	chr9:139487366-139487367	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551257806	chr9:139487417-139487418	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs377121315	chr9:139487435-139487436	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs142705874	chr9:139487455-139487456	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568878084	chr9:139487534-139487535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs530674614	chr9:139487540-139487541	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs181832343	chr9:139487578-139487579	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs7020793	chr9:139487602-139487603	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs114501552	chr9:139487642-139487643	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs115585317	chr9:139487670-139487671	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs374088934	chr9:139487687-139487688	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373676020	chr9:139487736-139487737	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs531401169	chr9:139487737-139487738	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs7030963	chr9:139487739-139487740	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184921354	chr9:139487744-139487745	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs112785742	chr9:139487768-139487769	Weak transcription Enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs544867128	chr9:139487771-139487772	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555279871	chr9:139487809-139487810	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147532175	chr9:139487826-139487827	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542223327	chr9:139487839-139487840	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559321203	chr9:139487865-139487866	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139424986	chr9:139487880-139487881	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539220773	chr9:139487881-139487882	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12337939	chr9:139487895-139487896	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111640503	chr9:139487914-139487915	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530614509	chr9:139487919-139487920	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550386736	chr9:139487929-139487930	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560831056	chr9:139487945-139487946	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372319645	chr9:139487962-139487963	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529962264	chr9:139487964-139487965	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375356012	chr9:139487965-139487966	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150035155	chr9:139487985-139487986	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566870149	chr9:139487988-139487989	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538699390	chr9:139487991-139487992	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551205779	chr9:139487994-139487995	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	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:5649 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139477800-139488200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr9:139478400-139488200	Enhancers	Fetal Muscle Leg	muscle
3	chr9:139482200-139494800	Weak transcription	Gastric	stomach
4	chr9:139482800-139487400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr9:139483200-139490800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:139484000-139487200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:139484200-139493800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:139484800-139494200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:139485400-139487200	ZNF genes & repeats	Fetal Thymus	thymus
10	chr9:139485400-139489800	Weak transcription	Fetal Heart	heart
11	chr9:139485400-139490800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:139485800-139490200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:139485800-139490400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:139485800-139493400	Weak transcription	Thymus	Thymus
15	chr9:139486000-139490000	Weak transcription	Brain Angular Gyrus	brain
16	chr9:139486000-139490800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr9:139486000-139492200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:139486200-139489400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr9:139486200-139490200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:139486200-139490400	Weak transcription	Brain Hippocampus Middle	brain
21	chr9:139486200-139490400	Weak transcription	Brain Substantia Nigra	brain
22	chr9:139486200-139491800	Weak transcription	Right Atrium	heart
23	chr9:139486200-139492600	Weak transcription	Right Ventricle	heart
24	chr9:139486400-139487800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:139486400-139491400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:139486600-139487400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:139486600-139487400	Weak transcription	Spleen	Spleen
28	chr9:139486600-139490200	Weak transcription	Brain Anterior Caudate	brain
29	chr9:139486600-139491600	Weak transcription	Esophagus	oesophagus
30	chr9:139486800-139487800	Bivalent Enhancer	Placenta	Placenta
31	chr9:139487000-139487200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr9:139487000-139488800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:139487000-139489800	Weak transcription	Fetal Lung	lung
34	chr9:139487200-139487400	Enhancers	Dnd41	blood
35	chr9:139487200-139487600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:139487200-139490800	Weak transcription	Fetal Thymus	thymus
37	chr9:139487400-139487600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:139487400-139487800	Active TSS	Spleen	Spleen
39	chr9:139487400-139490800	Weak transcription	Dnd41	blood
40	chr9:139487800-139488000	Enhancers	Spleen	Spleen
41	chr9:139487800-139490200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:139488000-139488800	Weak transcription	Spleen	Spleen
43	chr9:139488800-139489000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr9:139488800-139489400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:139488800-139489400	Enhancers	Spleen	Spleen
46	chr9:139489400-139489800	Weak transcription	Spleen	Spleen
47	chr9:139489400-139490200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr9:139489400-139490200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr9:139489400-139490200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:139489400-139490200	Enhancers	Monocytes-CD14+_RO01746	blood

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