Variant report

Variant	nsv1018959
Chromosome Location	chr8:11395232-11455756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2375)
CpG islands
(count:1160)
Chromatin interactive
region (count:52)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2375 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11446987-11447268	HepG2	liver:	n/a	n/a
2	ATF2	chr8:11396380-11397039	GM12878	blood:	n/a	n/a
3	ATF2	chr8:11402957-11404256	GM12878	blood:	n/a	n/a
4	ATF2	chr8:11396080-11397110	GM12878	blood:	n/a	n/a
5	ATF2	chr8:11416028-11417072	GM12878	blood:	n/a	n/a
6	ATF2	chr8:11394202-11396059	GM12878	blood:	n/a	n/a
7	ATF2	chr8:11446903-11447247	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr8:11446931-11447251	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr8:11402856-11404232	GM12878	blood:	n/a	n/a
10	ATF2	chr8:11446925-11447218	GM12878	blood:	n/a	n/a
11	ATF2	chr8:11416020-11416567	GM12878	blood:	n/a	n/a
12	ATF2	chr8:11395042-11395933	GM12878	blood:	n/a	n/a
13	ATF2	chr8:11411156-11411616	GM12878	blood:	n/a	n/a
14	ATF2	chr8:11421419-11423115	GM12878	blood:	n/a	n/a
15	ATF2	chr8:11418701-11418997	GM12878	blood:	n/a	n/a
16	ATF2	chr8:11421987-11422609	GM12878	blood:	n/a	n/a
17	ATF2	chr8:11411191-11411587	GM12878	blood:	n/a	n/a
18	BACH1	chr8:11411316-11411548	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr8:11446945-11447320	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr8:11422005-11422013	K562	blood:	n/a	n/a
21	BACH1	chr8:11421479-11422408	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr8:11416168-11416454	GM12878	blood:	n/a	n/a
23	BATF	chr8:11403194-11403693	GM12878	blood:	n/a	n/a
24	BATF	chr8:11403094-11403686	GM12878	blood:	n/a	n/a
25	BATF	chr8:11403808-11404213	GM12878	blood:	n/a	n/a
26	BATF	chr8:11395253-11395756	GM12878	blood:	n/a	n/a
27	BATF	chr8:11403782-11404243	GM12878	blood:	n/a	n/a
28	BATF	chr8:11396541-11396828	GM12878	blood:	n/a	n/a
29	BCL11A	chr8:11395105-11395737	GM12878	blood:	n/a	n/a
30	BCL11A	chr8:11403087-11403748	GM12878	blood:	n/a	chr8:11403287-11403296
31	BCL11A	chr8:11416159-11416609	GM12878	blood:	n/a	n/a
32	BCL11A	chr8:11403843-11404135	GM12878	blood:	n/a	n/a
33	BCL11A	chr8:11403784-11404237	GM12878	blood:	n/a	n/a
34	BCL11A	chr8:11403188-11403628	GM12878	blood:	n/a	chr8:11403287-11403296
35	BCL3	chr8:11421867-11422432	GM12878	blood:	n/a	chr8:11422235-11422243
36	BCL3	chr8:11395245-11395778	GM12878	blood:	n/a	chr8:11395756-11395769
37	BCL3	chr8:11395141-11395868	GM12878	blood:	n/a	chr8:11395756-11395769
38	BCL3	chr8:11418521-11418953	GM12878	blood:	n/a	chr8:11418702-11418710
39	BCL3	chr8:11421891-11422340	A549	lung:	n/a	chr8:11422235-11422243
40	BCL3	chr8:11423267-11423719	GM12878	blood:	n/a	n/a
41	BCL3	chr8:11403089-11403697	GM12878	blood:	n/a	chr8:11403287-11403296
42	BCL3	chr8:11396535-11396917	GM12878	blood:	n/a	n/a
43	BCL3	chr8:11421305-11422586	GM12878	blood:	n/a	chr8:11422235-11422243
44	BCL3	chr8:11403839-11404194	GM12878	blood:	n/a	n/a
45	BCL3	chr8:11403124-11403747	GM12878	blood:	n/a	chr8:11403287-11403296
46	BCL3	chr8:11422664-11423817	GM12878	blood:	n/a	n/a
47	BCL3	chr8:11416115-11417171	GM12878	blood:	n/a	n/a
48	BCLAF1	chr8:11403056-11404256	GM12878	blood:	n/a	chr8:11403287-11403296
49	BCLAF1	chr8:11394904-11396045	GM12878	blood:	n/a	chr8:11395756-11395769
50	BCLAF1	chr8:11423452-11423876	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	chr8:11416365-11416415	Hepatocyte	liver:	n/a
2	chr8:11416365-11416415	Hepatocyte	liver:	n/a
3	chr8:11422433-11422483	GM12878	blood:	n/a
4	chr8:11416365-11416415	SK-N-SH	brain:	n/a
5	chr8:11422730-11422780	HRE	kidney:	n/a
6	chr8:11424789-11424839	GM12891	blood:	n/a
7	chr8:11424789-11424839	PANC-1	pancreas:	n/a
8	chr8:11421934-11421984	HCM	heart:	n/a
9	chr8:11424789-11424839	HRPEpiC	eye:	n/a
10	chr8:11424789-11424839	MCF10A-Er-Src	breast:	n/a
11	chr8:11424789-11424839	NB4	blood:	n/a
12	chr8:11421934-11421984	NHDF-neo	bronchial:	n/a
13	chr8:11402219-11402269	NHDF-neo	bronchial:	n/a
14	chr8:11422167-11422217	HRE	kidney:	n/a
15	chr8:11413234-11413284	GM06990	blood:	n/a
16	chr8:11402219-11402269	HEEpiC	esophagus:	n/a
17	chr8:11451194-11451244	HepG2	liver:	n/a
18	chr8:11402219-11402269	BJ	skin:	n/a
19	chr8:11418058-11418108	CMK	blood:	n/a
20	chr8:11413234-11413284	NT2-D1	testis:	n/a
21	chr8:11413043-11413093	HIPEpiC	eye:	n/a
22	chr8:11411487-11411537	HRE	kidney:	n/a
23	chr8:11422167-11422217	ProgFib	skin:	n/a
24	chr8:11418058-11418108	Hela-S3	cervix:	n/a
25	chr8:11418058-11418108	HRE	kidney:	n/a
26	chr8:11424789-11424839	SK-N-SH_RA	brain:	n/a
27	chr8:11413186-11413236	SK-N-MC	brain:	n/a
28	chr8:11422433-11422483	SK-N-MC	brain:	n/a
29	chr8:11421594-11421644	HCT-116	colon:	n/a
30	chr8:11451194-11451244	SAEC	small airway:	n/a
31	chr8:11413186-11413236	A549	lung:	n/a
32	chr8:11417517-11417567	T-47D	breast:	n/a
33	chr8:11413186-11413236	SK-N-SH_RA	brain:	n/a
34	chr8:11413234-11413284	GM19239	blood:	n/a
35	chr8:11421594-11421644	HMEC	breast:	n/a
36	chr8:11402219-11402269	IMR90	lung:	fetal
37	chr8:11413234-11413284	HEK293	kidney:	embryo
38	chr8:11417517-11417567	NHBE	bronchial:	n/a
39	chr8:11424789-11424839	H1-hESC	embryonic stem cell:	embryo
40	chr8:11413234-11413284	A549	lung:	n/a
41	chr8:11421337-11421387	LNCaP	prostate:	n/a
42	chr8:11422730-11422780	AG09309	skin:	n/a
43	chr8:11422167-11422217	AG04450	lung:	fetal
44	chr8:11451041-11451091	HEK293	kidney:	embryo
45	chr8:11422167-11422217	NT2-D1	testis:	n/a
46	chr8:11417517-11417567	SK-N-MC	brain:	n/a
47	chr8:11411487-11411537	ProgFib	skin:	n/a
48	chr8:11413186-11413236	SAEC	small airway:	n/a
49	chr8:11421934-11421984	NHBE	bronchial:	n/a
50	chr8:11451194-11451244	AG09309	skin:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:62223347..62226304-chr8:11454133..11456749,2	MCF-7	breast:
2	chr8:11421685..11422256-chr8:11800840..11801381,2	K562	blood:
3	chr8:11421781..11422781-chr8:11603539..11604516,9	K562	blood:
4	chr8:11331911..11334130-chr8:11408479..11410507,2	MCF-7	breast:
5	chr8:11446870..11447723-chr8:11603904..11604616,2	K562	blood:
6	chr8:11421778..11422656-chr8:11816114..11817045,3	MCF-7	breast:
7	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:
8	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
9	chr8:11389216..11391992-chr8:11394333..11396573,2	MCF-7	breast:
10	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
11	chr8:11430263..11432062-chr8:11433287..11435276,2	K562	blood:
12	chr8:11430194..11430977-chr8:11603626..11604340,2	MCF-7	breast:
13	chr8:11394487..11397060-chr8:11401001..11403258,2	K562	blood:
14	chr8:11430122..11430693-chr8:11587796..11588653,2	MCF-7	breast:
15	chr8:11424667..11425261-chr8:11603180..11604185,3	MCF-7	breast:
16	chr8:11422289..11424857-chr8:11598109..11600598,2	MCF-7	breast:
17	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
18	chr8:11424139..11425217-chr8:11815416..11817027,6	K562	blood:
19	chr8:11271149..11271854-chr8:11412541..11413131,2	MCF-7	breast:
20	chr8:11426984..11428613-chr8:11595138..11596810,2	K562	blood:
21	chr8:11448479..11450712-chr8:11450788..11453218,2	K562	blood:
22	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:
23	chr8:11428917..11429796-chr8:11587902..11588451,3	MCF-7	breast:
24	chr8:11390853..11393388-chr8:11395895..11397560,2	K562	blood:
25	chr8:11446527..11447418-chr8:11587991..11588812,3	MCF-7	breast:
26	chr8:11448415..11450264-chr8:11463470..11466297,2	K562	blood:
27	chr8:11424324..11425489-chr8:11573800..11574792,3	MCF-7	breast:
28	chr8:11433477..11436325-chr8:11437296..11440162,3	MCF-7	breast:
29	chr8:11448479..11450712-chr8:11450788..11453218,2	K562	blood:
30	chr8:11424253..11424822-chr8:11800849..11801372,2	K562	blood:
31	chr8:11444228..11446493-chr8:11461211..11463347,2	K562	blood:
32	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
33	chr8:11433178..11433693-chr8:11488566..11489368,2	MCF-7	breast:
34	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
35	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:
36	chr8:11268286..11268904-chr8:11447156..11448012,2	K562	blood:
37	chr8:11399538..11402795-chr8:11403672..11407842,3	K562	blood:
38	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:
39	chr8:11432773..11433729-chr8:11587844..11588900,10	MCF-7	breast:
40	chr8:11418474..11420140-chr8:11572245..11574135,2	K562	blood:
41	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:
42	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
43	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
44	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
45	chr8:11421842..11422772-chr8:11603355..11604431,7	MCF-7	breast:
46	chr8:11286965..11287640-chr8:11410754..11411417,2	MCF-7	breast:
47	chr8:11422237..11424811-chr8:11602615..11604781,2	MCF-7	breast:
48	chr8:11421707..11422824-chr8:11816126..11817083,9	K562	blood:
49	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
50	chr8:11266732..11267234-chr8:11421696..11422273,2	K562	blood:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLK-1	chr8:11437979-11438851	XLOC_006711
2	lnc-BLK-1	chr8:11434044-11434826	NR_040035
3	lnc-BLK-1	chr8:11435879-11436150	NR_040035
4	lnc-BLK-1	chr8:11435879-11436150	ENSG00000170983
5	lnc-RP11-148O21.3.1-1	chr8:11411639-11411716	ENSG00000254774.1
6	lnc-RP11-148O21.3.1-2	chr8:11409997-11410500	ENSG00000269954.1
7	lnc-RP11-148O21.2.1-1	chr8:11416421-11416495	ENSG00000255354.1
8	lnc-BLK-1	chr8:11433822-11434826	ENSG00000170983
9	lnc-RP11-148O21.2.1-2	chr8:11413760-11414170	ENSG00000255518.1
10	lnc-RP11-148O21.2.1-1	chr8:11415975-11416256	ENSG00000255354.1
11	lnc-RP11-148O21.3.1-1	chr8:11410733-11411089	ENSG00000254774.1
12	lnc-BLK-1	chr8:11437979-11438851	ENSG00000170983
13	lnc-RP11-148O21.2.1-2	chr8:11415399-11415531	ENSG00000255518.1
14	lnc-RP11-148O21.2.1-1	chr8:11417293-11417529	ENSG00000255354.1
15	lnc-BLK-1	chr8:11437979-11438850	NR_040035
16	lnc-BLK-1	chr8:11434044-11434826	XLOC_006711
17	lnc-BLK-1	chr8:11435879-11436150	XLOC_006711

No data

Variant related genes	Relation type
BLK	TF binding region
ENSG00000255354	TF binding region
ENSG00000255518	TF binding region
ENSG00000254774	TF binding region
LINC00208	TF binding region
ENSG00000269954	TF binding region
BLK	CpG island
ENSG00000255354	CpG island
ENSG00000255518	CpG island
ENSG00000254774	CpG island
LINC00208	CpG island
ENSG00000269954	CpG island
ENSG00000255518	chromatin interactions
ENSG00000154319	chromatin interactions
ENSG00000269954	chromatin interactions
ENSG00000254774	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000136573	chromatin interactions
ENSG00000170983	chromatin interactions

Extended variants
information (count: 3600 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:3600 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1478897	chr8:11395232-11395233	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545111347	chr8:11395237-11395238	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112102186	chr8:11395238-11395239	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184056142	chr8:11395248-11395249	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542690348	chr8:11395261-11395262	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561142380	chr8:11395291-11395292	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs118023637	chr8:11395295-11395296	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560403201	chr8:11395309-11395310	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188987774	chr8:11395331-11395332	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145883294	chr8:11395352-11395353	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532456617	chr8:11395360-11395361	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192957416	chr8:11395365-11395366	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373006003	chr8:11395393-11395394	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529238983	chr8:11395410-11395411	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182957529	chr8:11395441-11395442	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565500574	chr8:11395449-11395450	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527753969	chr8:11395456-11395457	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1382564	chr8:11395464-11395465	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554572371	chr8:11395477-11395478	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569998696	chr8:11395478-11395479	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187257299	chr8:11395516-11395517	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558856785	chr8:11395523-11395524	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140216400	chr8:11395531-11395532	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534945057	chr8:11395542-11395543	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560905196	chr8:11395596-11395597	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538345519	chr8:11395600-11395601	Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553839649	chr8:11395617-11395618	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572198492	chr8:11395624-11395625	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532075909	chr8:11395629-11395630	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112239651	chr8:11395656-11395657	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560880996	chr8:11395660-11395661	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375808556	chr8:11395664-11395665	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576227916	chr8:11395683-11395684	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs73541742	chr8:11395719-11395720	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114502890	chr8:11395730-11395731	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145357390	chr8:11395736-11395737	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373906677	chr8:11395740-11395741	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117945317	chr8:11395772-11395773	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559402341	chr8:11395781-11395782	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191721130	chr8:11395782-11395783	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183814559	chr8:11395817-11395818	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570054419	chr8:11395839-11395840	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs137959284	chr8:11395848-11395849	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149483541	chr8:11395849-11395850	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571102845	chr8:11395894-11395895	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189365541	chr8:11395904-11395905	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553633948	chr8:11395931-11395932	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538958633	chr8:11396015-11396016	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144083134	chr8:11396020-11396021	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536372705	chr8:11396082-11396083	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1072 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11391400-11395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:11392200-11395600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr8:11392200-11397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:11392400-11396800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:11392400-11397200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:11392400-11403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:11394800-11396000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:11394800-11396400	Enhancers	Fetal Thymus	thymus
10	chr8:11395000-11395600	Enhancers	Liver	Liver
11	chr8:11395000-11395800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr8:11395000-11396400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:11395200-11395400	Enhancers	Fetal Kidney	kidney
14	chr8:11395200-11395600	Enhancers	GM12878-XiMat	blood
15	chr8:11395200-11395800	Bivalent Enhancer	Fetal Lung	lung
16	chr8:11395200-11397600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr8:11395400-11395600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:11395400-11395800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:11395400-11395800	Enhancers	Lung	lung
20	chr8:11395600-11395800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:11395600-11395800	Active TSS	Spleen	Spleen
22	chr8:11395600-11396400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
23	chr8:11395600-11398000	Flanking Active TSS	GM12878-XiMat	blood
24	chr8:11395800-11396000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:11395800-11396200	Weak transcription	Spleen	Spleen
26	chr8:11396200-11396400	Enhancers	Spleen	Spleen
27	chr8:11396400-11396800	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr8:11396400-11400000	Weak transcription	Spleen	Spleen
29	chr8:11396600-11397600	Enhancers	Fetal Lung	lung
30	chr8:11396800-11397000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:11396800-11397400	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr8:11396800-11398800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:11397200-11397400	Enhancers	Primary hematopoietic stem cells	blood
34	chr8:11397200-11397800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:11397400-11398200	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr8:11397600-11398000	Enhancers	Primary B cells from cord blood	blood
37	chr8:11397600-11401000	Weak transcription	Fetal Lung	lung
38	chr8:11398000-11398200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr8:11398000-11399200	Enhancers	GM12878-XiMat	blood
40	chr8:11398200-11398600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr8:11398200-11400400	Enhancers	Primary B cells from cord blood	blood
42	chr8:11398600-11402600	Genic enhancers	Primary B cells from peripheral blood	blood
43	chr8:11399200-11399600	Weak transcription	GM12878-XiMat	blood
44	chr8:11399600-11400000	Genic enhancers	GM12878-XiMat	blood
45	chr8:11400000-11400400	Enhancers	Spleen	Spleen
46	chr8:11400000-11400400	Weak transcription	GM12878-XiMat	blood
47	chr8:11400400-11400600	Strong transcription	GM12878-XiMat	blood
48	chr8:11400400-11402400	Genic enhancers	Primary B cells from cord blood	blood
49	chr8:11400400-11404800	Weak transcription	Spleen	Spleen
50	chr8:11400600-11401200	Weak transcription	GM12878-XiMat	blood

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