Variant report

Variant	nsv614852
Chromosome Location	chr9:92786722-93100550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2589)
CpG islands
(count:306)
Chromatin interactive
region (count:113)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:92864676-92864895	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:92931825-92932207	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:92904934-92905202	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:92904198-92904310	HepG2	liver:	n/a	n/a
5	ATF1	chr9:92864652-92864888	K562	blood:	n/a	n/a
6	ATF2	chr9:92857948-92858265	GM12878	blood:	n/a	n/a
7	ATF2	chr9:92951642-92951847	GM12878	blood:	n/a	n/a
8	ATF2	chr9:93049726-93050109	GM12878	blood:	n/a	n/a
9	BACH1	chr9:93088508-93088797	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr9:92796450-92796595	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr9:92847250-92847252	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr9:93088544-93088830	K562	blood:	n/a	n/a
13	BACH1	chr9:92989234-92989338	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr9:92861581-92861885	GM12878	blood:	n/a	n/a
15	BATF	chr9:92857969-92858266	GM12878	blood:	n/a	n/a
16	BATF	chr9:93049789-93050096	GM12878	blood:	n/a	n/a
17	BATF	chr9:93038458-93038777	GM12878	blood:	n/a	n/a
18	BATF	chr9:93038508-93038817	GM12878	blood:	n/a	n/a
19	BATF	chr9:93049762-93050054	GM12878	blood:	n/a	n/a
20	BATF	chr9:92861626-92861866	GM12878	blood:	n/a	n/a
21	BATF	chr9:92989140-92989405	GM12878	blood:	n/a	n/a
22	BATF	chr9:92999499-92999649	GM12878	blood:	n/a	n/a
23	BATF	chr9:92965282-92965468	GM12878	blood:	n/a	n/a
24	BATF	chr9:92989064-92989394	GM12878	blood:	n/a	n/a
25	BCL11A	chr9:92951650-92951969	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:92951613-92951890	GM12878	blood:	n/a	n/a
27	BCL3	chr9:92862090-92862449	GM12878	blood:	n/a	n/a
28	BCL3	chr9:92988991-92989508	A549	lung:	n/a	n/a
29	BCL3	chr9:92989044-92989494	A549	lung:	n/a	n/a
30	BCL3	chr9:93063601-93063866	GM12878	blood:	n/a	n/a
31	BCL3	chr9:92874436-92874653	GM12878	blood:	n/a	n/a
32	BHLHE40	chr9:92855812-92855907	GM12878	blood:	n/a	n/a
33	BHLHE40	chr9:93049743-93050128	GM12878	blood:	n/a	n/a
34	BHLHE40	chr9:92786693-92787056	GM12878	blood:	n/a	n/a
35	BHLHE40	chr9:92864544-92864910	GM12878	blood:	n/a	n/a
36	BHLHE40	chr9:92951617-92952004	GM12878	blood:	n/a	n/a
37	BHLHE40	chr9:92989171-92989351	GM12878	blood:	n/a	n/a
38	BHLHE40	chr9:92862237-92862355	K562	blood:	n/a	n/a
39	BRCA1	chr9:92805855-92805925	HepG2	liver:	n/a	n/a
40	BRCA1	chr9:92904079-92904353	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr9:92864839-92864843	HepG2	liver:	n/a	n/a
42	CCNT2	chr9:93013376-93013527	K562	blood:	n/a	n/a
43	CEBPB	chr9:92960940-92961231	HepG2	liver:	n/a	chr9:92961075-92961086 chr9:92961211-92961224 chr9:92961211-92961222 chr9:92961077-92961088 chr9:92961075-92961088
44	CEBPB	chr9:92806785-92807318	A549	lung:	n/a	n/a
45	CEBPB	chr9:93016582-93017011	A549	lung:	n/a	chr9:93016688-93016699
46	CEBPB	chr9:92904090-92904500	HCT-116	colon:	n/a	n/a
47	CEBPB	chr9:93000337-93000525	K562	blood:	n/a	n/a
48	CEBPB	chr9:92815419-92815647	A549	lung:	n/a	n/a
49	CEBPB	chr9:93069304-93069454	HepG2	liver:	n/a	chr9:93069351-93069362
50	CEBPB	chr9:93094507-93094784	HepG2	liver:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:92806854-92806904	HL-60	blood:	n/a
2	chr9:92806854-92806904	HL-60	blood:	n/a
3	chr9:92806854-92806904	Jurkat	blood:	n/a
4	chr9:92807111-92807161	Jurkat	blood:	n/a
5	chr9:92983726-92983776	LNCaP	prostate:	n/a
6	chr9:92981825-92981875	Jurkat	blood:	n/a
7	chr9:92806854-92806904	HRPEpiC	eye:	n/a
8	chr9:92982316-92982366	AG09309	skin:	n/a
9	chr9:92981825-92981875	CMK	blood:	n/a
10	chr9:92981825-92981875	NHDF-neo	bronchial:	n/a
11	chr9:92981825-92981875	BJ	skin:	n/a
12	chr9:92982316-92982366	NB4	blood:	n/a
13	chr9:92981825-92981875	Hepatocyte	liver:	n/a
14	chr9:92981825-92981875	SK-N-SH	brain:	n/a
15	chr9:92982316-92982366	NT2-D1	testis:	n/a
16	chr9:92982316-92982366	HAEpiC	amniotic membrane:	n/a
17	chr9:92806854-92806904	HRCEpiC	kidney:	n/a
18	chr9:92806854-92806904	HIPEpiC	eye:	n/a
19	chr9:92983726-92983776	K562	blood:	n/a
20	chr9:92981825-92981875	NT2-D1	testis:	n/a
21	chr9:92807111-92807161	AG09309	skin:	n/a
22	chr9:92981825-92981875	HIPEpiC	eye:	n/a
23	chr9:92983726-92983776	HRCEpiC	kidney:	n/a
24	chr9:92807111-92807161	T-47D	breast:	n/a
25	chr9:92982316-92982366	SK-N-SH	brain:	n/a
26	chr9:92982316-92982366	AG09319	gingival:	n/a
27	chr9:92807111-92807161	SAEC	small airway:	n/a
28	chr9:92982316-92982366	SK-N-SH_RA	brain:	n/a
29	chr9:92982316-92982366	GM19239	blood:	n/a
30	chr9:92982316-92982366	HCM	heart:	n/a
31	chr9:92806854-92806904	AG09319	gingival:	n/a
32	chr9:92806854-92806904	MCF-7	breast:	n/a
33	chr9:92806854-92806904	ovcar-3	ovarian:	n/a
34	chr9:92807111-92807161	AG04450	lung:	fetal
35	chr9:92982316-92982366	AG10803	skin:	n/a
36	chr9:92806854-92806904	NH-A	brain:	n/a
37	chr9:92806854-92806904	AG04449	skin:	fetal
38	chr9:92982316-92982366	HEEpiC	esophagus:	n/a
39	chr9:92806854-92806904	Hela-S3	cervix:	n/a
40	chr9:92983726-92983776	PFSK-1	brain:	n/a
41	chr9:92983726-92983776	CMK	blood:	n/a
42	chr9:92807111-92807161	HCF	heart:	n/a
43	chr9:92982316-92982366	RPTEC	kidney:	n/a
44	chr9:92807111-92807161	HIPEpiC	eye:	n/a
45	chr9:92806854-92806904	H1-hESC	embryonic stem cell:	embryo
46	chr9:92982316-92982366	AG04449	skin:	fetal
47	chr9:92806854-92806904	T-47D	breast:	n/a
48	chr9:92982316-92982366	Hela-S3	cervix:	n/a
49	chr9:92982316-92982366	Hepatocyte	liver:	n/a
50	chr9:92981825-92981875	AG04449	skin:	fetal

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:92904050..92904947-chr9:93535978..93536876,3	MCF-7	breast:
2	chr9:92218658..92223647-chr9:92860097..92866006,11	MCF-7	breast:
3	chr9:92857591..92859341-chr9:92860040..92862686,2	MCF-7	breast:
4	chr9:93067169..93069123-chr9:93074585..93076643,2	MCF-7	breast:
5	chr9:92740215..92741137-chr9:92861382..92862059,2	MCF-7	breast:
6	chr9:92819755..92821762-chr9:92851468..92853171,2	MCF-7	breast:
7	chr9:92735281..92736808-chr9:92829136..92830868,2	MCF-7	breast:
8	chr9:92918798..92921681-chr9:92947393..92950211,2	MCF-7	breast:
9	chr9:92931518..92933376-chr9:92938266..92940376,2	MCF-7	breast:
10	chr9:92189652..92191181-chr9:92863746..92865301,2	MCF-7	breast:
11	chr9:92691934..92694632-chr9:92847404..92848934,2	MCF-7	breast:
12	chr9:92217628..92218654-chr9:92861302..92862433,8	MCF-7	breast:
13	chr9:92220340..92222193-chr9:92847340..92849839,2	MCF-7	breast:
14	chr9:92918798..92921681-chr9:92947393..92950211,2	MCF-7	breast:
15	chr9:92889944..92891846-chr9:92907899..92909483,2	MCF-7	breast:
16	chr6:3000005..3000535-chr9:93027281..93027801,2	MCF-7	breast:
17	chr9:92904585..92905563-chr9:92981517..92982470,9	MCF-7	breast:
18	chr9:92212800..92213722-chr9:92903603..92905016,5	MCF-7	breast:
19	chr9:93080535..93081683-chr9:93405150..93405933,3	MCF-7	breast:
20	chr9:92783675..92785837-chr9:92791024..92793603,2	MCF-7	breast:
21	chr9:92793117..92794767-chr9:92795692..92798106,2	MCF-7	breast:
22	chr9:93011546..93013972-chr9:93052355..93054328,2	MCF-7	breast:
23	chr9:92212399..92214599-chr9:92867248..92869554,2	MCF-7	breast:
24	chr9:92824957..92827481-chr9:92828835..92831735,3	MCF-7	breast:
25	chr9:92921559..92924018-chr9:92927054..92929355,2	MCF-7	breast:
26	chr9:92921559..92924018-chr9:92927054..92929355,2	MCF-7	breast:
27	chr9:92774758..92776459-chr9:92788172..92789725,2	MCF-7	breast:
28	chr9:92219096..92220689-chr9:92821073..92823760,2	MCF-7	breast:
29	chr9:92794140..92796273-chr9:92804304..92805931,2	MCF-7	breast:
30	chr9:92889944..92891846-chr9:92907899..92909483,2	MCF-7	breast:
31	chr9:92904573..92905325-chr9:92981766..92982487,4	MCF-7	breast:
32	chr9:92838038..92840545-chr9:92841248..92842869,2	K562	blood:
33	chr9:92872786..92875588-chr9:92878982..92882592,3	MCF-7	breast:
34	chr9:92794140..92796273-chr9:92804304..92805931,2	MCF-7	breast:
35	chr9:93011546..93013972-chr9:93052355..93054328,2	MCF-7	breast:
36	chr9:92217541..92219304-chr9:92861323..92862818,15	MCF-7	breast:
37	chr9:92207554..92215968-chr9:92858794..92866301,17	MCF-7	breast:
38	chr9:92931518..92933376-chr9:92938266..92940376,2	MCF-7	breast:
39	chr9:92840607..92843338-chr9:92847202..92850041,2	MCF-7	breast:
40	chr9:92936090..92938700-chr9:92964176..92966160,2	MCF-7	breast:
41	chr9:92820911..92823641-chr9:92827194..92830038,2	MCF-7	breast:
42	chr9:92936090..92938700-chr9:92964176..92966160,2	MCF-7	breast:
43	chr9:93005901..93009302-chr9:93010303..93013281,3	MCF-7	breast:
44	chr9:93080669..93081254-chr9:93407694..93408434,5	MCF-7	breast:
45	chr9:92887879..92890112-chr9:92900517..92902714,2	MCF-7	breast:
46	chr8:105501678..105502178-chr9:92935952..92936785,2	MCF-7	breast:
47	chr9:92213022..92213731-chr9:92861384..92862297,6	MCF-7	breast:
48	chr9:92840607..92843338-chr9:92847202..92850041,2	MCF-7	breast:
49	chr9:92208871..92209406-chr9:92864125..92864727,2	K562	blood:
50	chr9:92820911..92823641-chr9:92827194..92830038,2	MCF-7	breast:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-4	chr9:92786845-92788381	ENSG00000227555
2	lnc-DIRAS2-11	chr9:92921241-92921663	NONHSAT132995
3	lnc-SYK-9	chr9:93093837-93093904	NONHSAT133000
4	lnc-DIRAS2-13	chr9:92909226-92909407	NONHSAT132993
5	lnc-DIRAS2-14	chr9:92865397-92868719	ucscGeneNc_uc004ard_1
6	lnc-DIRAS2-11	chr9:92965108-92965190	NONHSAT132995
7	lnc-DIRAS2-13	chr9:92907195-92907485	l_3807_chr9:92907194-92908622_whiteBloodCell
8	lnc-DIRAS2-2	chr9:93063178-93063935	NR_109795
9	lnc-DIRAS2-10	chr9:93028093-93029379	NONHSAT132997
10	lnc-SYK-11	chr9:92964974-92967679	NONHSAT132996
11	lnc-DIRAS2-14	chr9:92875629-92877235	ucscGeneNc_uc004ard_1
12	lnc-DIRAS2-13	chr9:92908568-92908622	l_3807_chr9:92907194-92908622_whiteBloodCell
13	lnc-SYK-9	chr9:93087618-93087758	NONHSAT133000
14	lnc-DIRAS2-4	chr9:92798330-92798413	ENSG00000227555
15	lnc-DIRAS2-12	chr9:92920310-92920928	NONHSAT132994
16	lnc-DIRAS2-10	chr9:93034039-93034046	NONHSAT132997
17	lnc-DIRAS2-4	chr9:92803575-92803781	ENSG00000227555
18	lnc-SYK-11	chr9:92961872-92961910	NONHSAT132996
19	lnc-DIRAS2-13	chr9:92908568-92908774	NONHSAT132993
20	lnc-DIRAS2-13	chr9:92907060-92907485	NONHSAT132993
21	lnc-DIRAS2-14	chr9:92868832-92868979	ucscGeneNc_uc004ard_1
22	lnc-DIRAS2-14	chr9:92871560-92871730	ucscGeneNc_uc004ard_1

No data

Variant related genes	Relation type
IL6RP1	TF binding region
MIR4290	TF binding region
OR7E116P	TF binding region
OR7E31P	TF binding region
ENSG00000227555	TF binding region
IL6RP1	CpG island
MIR4290	CpG island
OR7E116P	CpG island
OR7E31P	CpG island
ENSG00000227555	CpG island
ENSG00000234910	chromatin interactions
ENSG00000123975	chromatin interactions
ENSG00000237626	chromatin interactions
ENSG00000165023	chromatin interactions
ENSG00000124588	chromatin interactions
ENSG00000263967	chromatin interactions
ENSG00000227555	chromatin interactions
ENSG00000130222	chromatin interactions

Extended variants
information (count: 9660 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:9660 , 50 per page) page: 1 2 3 4 5 6 7 ... 194

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs657899	chr9:92786722-92786723	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565452503	chr9:92786778-92786779	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs139675534	chr9:92786795-92786796	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs41274971	chr9:92786821-92786822	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149861744	chr9:92786865-92786866	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs190228243	chr9:92786874-92786875	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs613212	chr9:92786912-92786913	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533666970	chr9:92786927-92786928	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs116049341	chr9:92786970-92786971	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs566991892	chr9:92786990-92786991	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs111813126	chr9:92787016-92787017	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs558989388	chr9:92787018-92787019	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs140130704	chr9:92787076-92787077	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs538258643	chr9:92787082-92787083	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs555030468	chr9:92787085-92787086	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs112541287	chr9:92787133-92787134	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs147708524	chr9:92787251-92787252	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs79375220	chr9:92787252-92787253	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs141231240	chr9:92787295-92787296	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs193258036	chr9:92787303-92787304	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs145101137	chr9:92787326-92787327	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs185103559	chr9:92787357-92787358	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs541695844	chr9:92787386-92787387	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs57653494	chr9:92787387-92787388	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs561390370	chr9:92787390-92787391	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150935298	chr9:92787393-92787394	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs547184144	chr9:92787420-92787421	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs150179449	chr9:92787460-92787461	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs138639933	chr9:92787514-92787515	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs552703747	chr9:92787551-92787552	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs569457932	chr9:92787560-92787561	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs538585803	chr9:92787567-92787568	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs370353028	chr9:92787602-92787603	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs704476	chr9:92787643-92787644	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369762333	chr9:92787660-92787661	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs552419451	chr9:92787666-92787667	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs534137433	chr9:92787673-92787674	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs79470229	chr9:92787691-92787692	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs375138034	chr9:92787707-92787708	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs10991740	chr9:92787739-92787740	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201818848	chr9:92787761-92787762	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs41274973	chr9:92787870-92787871	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs556353932	chr9:92787874-92787875	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs10991742	chr9:92787910-92787911	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370534828	chr9:92787945-92787946	Enhancers Weak transcription Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs554506608	chr9:92788001-92788002	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs374337911	chr9:92788019-92788020	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs189037184	chr9:92788023-92788024	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs145456910	chr9:92788053-92788054	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs540992610	chr9:92788082-92788083	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD

Chromatin state (count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92776800-92787200	Weak transcription	Esophagus	oesophagus
2	chr9:92781400-92790400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:92783000-92789000	Enhancers	Primary B cells from cord blood	blood
4	chr9:92783400-92787000	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:92783400-92787800	Weak transcription	HSMMtube	muscle
6	chr9:92783600-92787200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:92784800-92786800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr9:92784800-92788600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:92785000-92787200	Weak transcription	Gastric	stomach
10	chr9:92785400-92787600	Weak transcription	NHEK	skin
11	chr9:92786000-92787800	Enhancers	Duodenum Mucosa	Duodenum
12	chr9:92786000-92787800	Enhancers	GM12878-XiMat	blood
13	chr9:92786200-92787000	Weak transcription	Lung	lung
14	chr9:92786200-92788400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:92786400-92786800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:92786400-92786800	Weak transcription	Adipose Nuclei	Adipose
17	chr9:92786600-92787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:92786600-92788200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:92786800-92787600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr9:92786800-92788000	Enhancers	Fetal Intestine Small	intestine
21	chr9:92786800-92788200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr9:92786800-92788400	Enhancers	Adipose Nuclei	Adipose
23	chr9:92787000-92787200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr9:92787000-92787400	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr9:92787000-92787400	Enhancers	Lung	lung
26	chr9:92787000-92788000	Enhancers	Spleen	Spleen
27	chr9:92787000-92788200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:92787000-92788200	Enhancers	Fetal Intestine Large	intestine
29	chr9:92787000-92788400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:92787000-92788400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:92787000-92790400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:92787200-92787400	Enhancers	Gastric	stomach
33	chr9:92787200-92787600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr9:92787200-92788200	Enhancers	Esophagus	oesophagus
35	chr9:92787200-92788400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr9:92787200-92789200	Enhancers	HMEC	breast
37	chr9:92787400-92787600	Weak transcription	Lung	lung
38	chr9:92787400-92789000	Enhancers	Primary B cells from peripheral blood	blood
39	chr9:92787400-92789200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:92787600-92788000	Enhancers	Lung	lung
41	chr9:92787600-92788000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr9:92787600-92788200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr9:92787600-92788400	Enhancers	Fetal Muscle Leg	muscle
44	chr9:92787600-92789200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr9:92787600-92790200	Enhancers	NHEK	skin
46	chr9:92787800-92788000	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr9:92787800-92788200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr9:92787800-92788200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr9:92787800-92788400	Enhancers	Fetal Muscle Trunk	muscle
50	chr9:92787800-92788400	Enhancers	Placenta	Placenta

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