Variant report

Variant	nsv998567
Chromosome Location	chr2:37886244-37910627
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:998)
CpG islands
(count:1160)
Chromatin interactive
region (count:32)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:37899629-37899649	K562	blood:	n/a	n/a
2	ARID3A	chr2:37899378-37899397	K562	blood:	n/a	n/a
3	ATF1	chr2:37910388-37910830	K562	blood:	n/a	n/a
4	ATF1	chr2:37909689-37909972	K562	blood:	n/a	n/a
5	ATF2	chr2:37899676-37900188	GM12878	blood:	n/a	n/a
6	ATF3	chr2:37899215-37900104	A549	lung:	n/a	n/a
7	ATF3	chr2:37899123-37899611	A549	lung:	n/a	n/a
8	BACH1	chr2:37898413-37898823	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr2:37899706-37899922	GM12878	blood:	n/a	n/a
10	BCL11A	chr2:37899316-37899647	GM12878	blood:	n/a	chr2:37899337-37899346
11	BCL3	chr2:37898016-37898755	A549	lung:	n/a	chr2:37898489-37898498 chr2:37898591-37898604
12	BCL3	chr2:37898268-37898831	A549	lung:	n/a	chr2:37898489-37898498 chr2:37898591-37898604 chr2:37898743-37898756
13	BCL3	chr2:37898882-37900267	A549	lung:	n/a	chr2:37899281-37899290 chr2:37899337-37899346 chr2:37898885-37898898
14	BCL3	chr2:37899194-37899574	GM12878	blood:	n/a	chr2:37899281-37899290 chr2:37899337-37899346
15	BCLAF1	chr2:37898366-37898895	GM12878	blood:	n/a	chr2:37898874-37898883 chr2:37898489-37898498 chr2:37898591-37898604 chr2:37898743-37898756
16	BCLAF1	chr2:37899183-37900179	GM12878	blood:	n/a	chr2:37899281-37899290 chr2:37899337-37899346
17	BCLAF1	chr2:37899074-37900127	GM12878	blood:	n/a	chr2:37899281-37899290 chr2:37899337-37899346
18	BHLHE40	chr2:37898665-37898707	K562	blood:	n/a	n/a
19	BHLHE40	chr2:37898015-37898134	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:37899029-37900012	K562	blood:	n/a	chr2:37899284-37899300 chr2:37899600-37899616 chr2:37899290-37899306
21	BHLHE40	chr2:37899162-37900067	GM12878	blood:	n/a	chr2:37899284-37899300 chr2:37899600-37899616 chr2:37899290-37899306
22	BHLHE40	chr2:37899206-37899581	A549	lung:	n/a	chr2:37899284-37899300 chr2:37899290-37899306
23	BRCA1	chr2:37898577-37898724	GM12878	blood:	n/a	n/a
24	CBX3	chr2:37903212-37904072	HCT-116	colon:	n/a	n/a
25	CBX3	chr2:37903295-37903949	HCT-116	colon:	n/a	n/a
26	CCNT2	chr2:37898178-37899958	K562	blood:	n/a	chr2:37899861-37899870
27	CCNT2	chr2:37909833-37910036	K562	blood:	n/a	chr2:37909849-37909869
28	CEBPB	chr2:37910418-37910696	K562	blood:	n/a	n/a
29	CEBPB	chr2:37908693-37909016	K562	blood:	n/a	chr2:37908841-37908852
30	CEBPB	chr2:37908668-37909012	HepG2	liver:	n/a	chr2:37908841-37908852
31	CEBPB	chr2:37903504-37903730	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:37908703-37909025	IMR90	lung:	n/a	chr2:37908841-37908852
33	CEBPB	chr2:37910357-37910625	K562	blood:	n/a	n/a
34	CEBPB	chr2:37903454-37903811	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:37897455-37897767	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr2:37908762-37908997	Hela-S3	cervix:	n/a	chr2:37908841-37908852
37	CEBPB	chr2:37903338-37903920	HCT-116	colon:	n/a	n/a
38	CEBPB	chr2:37908690-37908959	A549	lung:	n/a	chr2:37908841-37908852
39	CEBPB	chr2:37896929-37897195	HepG2	liver:	n/a	chr2:37897034-37897045
40	CEBPB	chr2:37897478-37897726	A549	lung:	n/a	n/a
41	CEBPB	chr2:37886594-37886821	MCF-7	breast:	n/a	chr2:37886609-37886620 chr2:37886715-37886732
42	CEBPB	chr2:37903509-37903710	IMR90	lung:	n/a	n/a
43	CEBPB	chr2:37897576-37897580	K562	blood:	n/a	n/a
44	CEBPB	chr2:37903353-37903780	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr2:37896773-37896968	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr2:37896531-37897106	A549	lung:	n/a	chr2:37897034-37897045
47	CEBPB	chr2:37903205-37904023	HCT-116	colon:	n/a	n/a
48	CEBPB	chr2:37897409-37897728	IMR90	lung:	n/a	n/a
49	CHD1	chr2:37895744-37896636	GM12878	blood:	n/a	n/a
50	CHD1	chr2:37898130-37898767	GM12878	blood:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:37896583-37896633	HEEpiC	esophagus:	n/a
2	chr2:37896583-37896633	HEEpiC	esophagus:	n/a
3	chr2:37899444-37899494	AG10803	skin:	n/a
4	chr2:37899355-37899405	GM12892	blood:	n/a
5	chr2:37899435-37899485	SK-N-SH	brain:	n/a
6	chr2:37887034-37887084	AG04449	skin:	fetal
7	chr2:37898638-37898688	A549	lung:	n/a
8	chr2:37899464-37899514	HEEpiC	esophagus:	n/a
9	chr2:37899953-37900003	NB4	blood:	n/a
10	chr2:37899355-37899405	ovcar-3	ovarian:	n/a
11	chr2:37899355-37899405	T-47D	breast:	n/a
12	chr2:37900205-37900255	PFSK-1	brain:	n/a
13	chr2:37899953-37900003	AG04449	skin:	fetal
14	chr2:37899464-37899514	LNCaP	prostate:	n/a
15	chr2:37899023-37899073	T-47D	breast:	n/a
16	chr2:37903481-37903531	HCM	heart:	n/a
17	chr2:37899357-37899407	MCF10A-Er-Src	breast:	n/a
18	chr2:37899561-37899611	PrEC	prostate:	n/a
19	chr2:37899464-37899514	H1-hESC	embryonic stem cell:	embryo
20	chr2:37899953-37900003	BJ	skin:	n/a
21	chr2:37899355-37899405	SK-N-SH	brain:	n/a
22	chr2:37897716-37897766	Jurkat	blood:	n/a
23	chr2:37899435-37899485	PANC-1	pancreas:	n/a
24	chr2:37909996-37910046	U87	brain:	n/a
25	chr2:37897716-37897766	HAEpiC	amniotic membrane:	n/a
26	chr2:37899355-37899405	SAEC	small airway:	n/a
27	chr2:37899444-37899494	HepG2	liver:	n/a
28	chr2:37898101-37898151	HEK293	kidney:	embryo
29	chr2:37899953-37900003	HCF	heart:	n/a
30	chr2:37897716-37897766	AG09319	gingival:	n/a
31	chr2:37893255-37893305	H1-hESC	embryonic stem cell:	embryo
32	chr2:37903481-37903531	HMEC	breast:	n/a
33	chr2:37899357-37899407	GM06990	blood:	n/a
34	chr2:37899464-37899514	Caco-2	colon:	n/a
35	chr2:37899435-37899485	PrEC	prostate:	n/a
36	chr2:37899357-37899407	SK-N-MC	brain:	n/a
37	chr2:37896583-37896633	IMR90	lung:	fetal
38	chr2:37899355-37899405	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:37899776-37899826	RPTEC	kidney:	n/a
40	chr2:37898638-37898688	Jurkat	blood:	n/a
41	chr2:37899776-37899826	HMEC	breast:	n/a
42	chr2:37887034-37887084	NT2-D1	testis:	n/a
43	chr2:37899561-37899611	BE2_C	brain:	n/a
44	chr2:37898366-37898416	RPTEC	kidney:	n/a
45	chr2:37899444-37899494	HRE	kidney:	n/a
46	chr2:37899023-37899073	PFSK-1	brain:	n/a
47	chr2:37899023-37899073	AoSMC	blood vessel:	n/a
48	chr2:37899561-37899611	AG10803	skin:	n/a
49	chr2:37903481-37903531	CMK	blood:	n/a
50	chr2:37898101-37898151	HNPCEpiC	eye:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37888261..37891302-chr2:37893460..37895154,3	K562	blood:
2	chr2:37901542..37903159-chr2:37919185..37920897,2	K562	blood:
3	chr2:37906138..37908983-chr2:37910229..37911986,2	MCF-7	breast:
4	chr2:37888739..37890489-chr2:37897152..37899856,2	MCF-7	breast:
5	chr2:37886213..37888801-chr2:37890844..37893237,2	MCF-7	breast:
6	chr2:37900528..37902254-chr2:37903447..37906132,2	MCF-7	breast:
7	chr2:37892381..37894768-chr2:37914084..37916577,2	MCF-7	breast:
8	chr2:37887881..37890513-chr2:37893460..37895028,2	K562	blood:
9	chr2:37887391..37889613-chr2:38000617..38003018,2	K562	blood:
10	chr2:37903809..37907927-chr2:37994371..37997035,4	MCF-7	breast:
11	chr2:37888781..37890355-chr2:37896503..37898938,2	MCF-7	breast:
12	chr2:37884189..37885698-chr2:37890544..37892731,2	K562	blood:
13	chr2:37896203..37899196-chr2:37994735..37996425,2	MCF-7	breast:
14	chr2:37897976..37899851-chr2:37913464..37916015,2	MCF-7	breast:
15	chr2:37887881..37890513-chr2:37893460..37895028,2	K562	blood:
16	chr2:37899209..37899972-chr4:125633775..125634624,2	HCT-116	colon:
17	chr2:37888261..37891302-chr2:37893460..37895154,3	K562	blood:
18	chr2:37903844..37906735-chr2:37907477..37909784,2	MCF-7	breast:
19	chr2:37906138..37908983-chr2:37910229..37911986,2	MCF-7	breast:
20	chr2:37877216..37879655-chr2:37884753..37886765,2	MCF-7	breast:
21	chr2:37888781..37890355-chr2:37896503..37898938,2	MCF-7	breast:
22	chr2:37877539..37880523-chr2:37887000..37889009,2	K562	blood:
23	chr2:37886213..37888801-chr2:37890844..37893237,2	MCF-7	breast:
24	chr2:37886940..37888699-chr2:37890365..37892218,2	K562	blood:
25	chr2:37903844..37906735-chr2:37907477..37909784,2	MCF-7	breast:
26	chr19:39109060..39109842-chr2:37898536..37899149,2	HCT-116	colon:
27	chr2:37886940..37888699-chr2:37890365..37892218,2	K562	blood:
28	chr2:37900528..37902254-chr2:37903447..37906132,2	MCF-7	breast:
29	chr2:37896479..37901472-chr2:37903866..37909932,8	MCF-7	breast:
30	chr2:37881322..37883473-chr2:37897027..37898680,2	MCF-7	breast:
31	chr2:37887603..37894024-chr2:37896602..37900502,7	K562	blood:
32	chr2:37878873..37880892-chr2:37884421..37886893,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM82A1-11	chr2:37899328-37900292	NONHSAT070136
2	lnc-FAM82A1-11	chr2:37898911-37899815	NONHSAT070135
3	lnc-PRKD3-1	chr2:37909580-37909685	NONHSAT070137
4	lnc-PRKD3-1	chr2:37909895-37910045	ucscGeneNc_uc002rqj_1
5	lnc-PRKD3-1	chr2:37909580-37909685	ucscGeneNc_uc002rqj_1
6	lnc-PRKD3-1	chr2:37909895-37910079	NONHSAT070137
7	lnc-PRKD3-1	chr2:37909580-37909685	NONHSAT070138
8	lnc-PRKD3-1	chr2:37908256-37908525	NONHSAT070138
9	lnc-PRKD3-1	chr2:37906894-37908525	NONHSAT070137
10	lnc-PRKD3-1	chr2:37906894-37908525	ucscGeneNc_uc002rqj_1

No data

Variant related genes	Relation type
CDC42EP3	TF binding region
CDC42EP3	CpG island
ENSG00000178982	chromatin interactions
ENSG00000163171	chromatin interactions
ENSG00000151458	chromatin interactions
ENSG00000104814	chromatin interactions

Extended variants
information (count: 1038 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6755117	chr2:37886244-37886245	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6755123	chr2:37886255-37886256	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181403080	chr2:37886259-37886260	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377273046	chr2:37886272-37886273	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2041507	chr2:37886275-37886276	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577651070	chr2:37886284-37886285	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72795739	chr2:37886448-37886449	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185516693	chr2:37886478-37886479	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56809883	chr2:37886495-37886496	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs137993174	chr2:37886538-37886539	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189912554	chr2:37886544-37886545	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560348743	chr2:37886557-37886558	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372048400	chr2:37886572-37886573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559455146	chr2:37886601-37886602	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377146616	chr2:37886627-37886628	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74458858	chr2:37886638-37886639	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180994989	chr2:37886640-37886641	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185233088	chr2:37886653-37886654	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114704307	chr2:37886657-37886658	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536782664	chr2:37886704-37886705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192504567	chr2:37886756-37886757	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4670748	chr2:37886778-37886779	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs566927424	chr2:37886817-37886818	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550733585	chr2:37886825-37886826	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114155876	chr2:37886842-37886843	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578229724	chr2:37886890-37886891	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4670210	chr2:37886901-37886902	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs557570254	chr2:37886907-37886908	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183836618	chr2:37886931-37886932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143454628	chr2:37886935-37886936	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377055660	chr2:37886945-37886946	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145759151	chr2:37886967-37886968	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540660396	chr2:37886985-37886986	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566306285	chr2:37887000-37887001	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs4670211	chr2:37887018-37887019	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188703461	chr2:37887035-37887036	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs544861136	chr2:37887051-37887052	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs138674321	chr2:37887058-37887059	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs546814738	chr2:37887060-37887061	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs548679479	chr2:37887062-37887063	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs149312061	chr2:37887073-37887074	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs6759224	chr2:37887090-37887091	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs546606253	chr2:37887120-37887121	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs375721246	chr2:37887145-37887146	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs539336774	chr2:37887156-37887157	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs191403350	chr2:37887198-37887199	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs569474331	chr2:37887238-37887239	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs148447745	chr2:37887257-37887258	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182595902	chr2:37887317-37887318	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111402069	chr2:37887361-37887362	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1342 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37853600-37897400	Weak transcription	Small Intestine	intestine
2	chr2:37872000-37892400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:37873800-37889000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:37874600-37893000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:37875800-37891800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:37875800-37893600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:37875800-37896400	Weak transcription	Fetal Intestine Small	intestine
8	chr2:37878400-37894000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:37878800-37886400	Weak transcription	Liver	Liver
10	chr2:37879600-37888800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:37879600-37893000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:37879600-37893000	Genic enhancers	Osteobl	bone
13	chr2:37879800-37888600	Weak transcription	Fetal Stomach	stomach
14	chr2:37880200-37888400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:37880400-37897000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:37881200-37890800	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:37881400-37887600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:37881800-37893200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:37881800-37893800	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:37881800-37894200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:37882000-37886400	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:37882000-37887000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:37882000-37891400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:37882200-37886400	Enhancers	Right Atrium	heart
25	chr2:37882400-37887600	Enhancers	Right Ventricle	heart
26	chr2:37882400-37895400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:37882600-37887400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr2:37882600-37887600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:37882600-37888000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:37882600-37888000	Genic enhancers	A549	lung
31	chr2:37882600-37896600	Weak transcription	Fetal Lung	lung
32	chr2:37882800-37888200	Genic enhancers	HSMMtube	muscle
33	chr2:37882800-37888800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:37882800-37896200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:37882800-37896400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:37883000-37886400	Weak transcription	K562	blood
37	chr2:37883200-37886400	Genic enhancers	NHLF	lung
38	chr2:37883200-37892400	Weak transcription	Fetal Brain Male	brain
39	chr2:37883200-37895400	Weak transcription	Brain Germinal Matrix	brain
40	chr2:37883400-37892000	Weak transcription	Fetal Brain Female	brain
41	chr2:37883400-37896400	Weak transcription	Colonic Mucosa	Colon
42	chr2:37883600-37887200	Genic enhancers	HMEC	breast
43	chr2:37883800-37887000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr2:37884000-37886600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:37884000-37891000	Enhancers	Colon Smooth Muscle	Colon
46	chr2:37884000-37893000	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:37884400-37887000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:37884400-37888800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:37884400-37889400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:37884600-37886400	Genic enhancers	Primary T cells fromperipheralblood	blood

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