Variant report

Variant	nsv523827
Chromosome Location	chr8:11408401-11486220
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2149)
CpG islands
(count:1770)
Chromatin interactive
region (count:55)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2149 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11486155-11486697	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:11470104-11470547	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11446987-11447268	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:11472167-11472558	HepG2	liver:	n/a	n/a
5	ATF1	chr8:11473011-11473046	K562	blood:	n/a	n/a
6	ATF2	chr8:11446931-11447251	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr8:11421987-11422609	GM12878	blood:	n/a	n/a
8	ATF2	chr8:11421419-11423115	GM12878	blood:	n/a	n/a
9	ATF2	chr8:11411156-11411616	GM12878	blood:	n/a	n/a
10	ATF2	chr8:11416020-11416567	GM12878	blood:	n/a	n/a
11	ATF2	chr8:11446925-11447218	GM12878	blood:	n/a	n/a
12	ATF2	chr8:11418701-11418997	GM12878	blood:	n/a	n/a
13	ATF2	chr8:11446903-11447247	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr8:11411191-11411587	GM12878	blood:	n/a	n/a
15	ATF2	chr8:11416028-11417072	GM12878	blood:	n/a	n/a
16	BACH1	chr8:11421479-11422408	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr8:11422005-11422013	K562	blood:	n/a	n/a
18	BACH1	chr8:11463287-11463625	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	chr8:11411316-11411548	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr8:11416168-11416454	GM12878	blood:	n/a	n/a
22	BCL11A	chr8:11416159-11416609	GM12878	blood:	n/a	n/a
23	BCL3	chr8:11416115-11417171	GM12878	blood:	n/a	n/a
24	BCL3	chr8:11418521-11418953	GM12878	blood:	n/a	chr8:11418702-11418710
25	BCL3	chr8:11423267-11423719	GM12878	blood:	n/a	n/a
26	BCL3	chr8:11421867-11422432	GM12878	blood:	n/a	chr8:11422235-11422243
27	BCL3	chr8:11421891-11422340	A549	lung:	n/a	chr8:11422235-11422243
28	BCL3	chr8:11421305-11422586	GM12878	blood:	n/a	chr8:11422235-11422243
29	BCL3	chr8:11422664-11423817	GM12878	blood:	n/a	n/a
30	BCLAF1	chr8:11423452-11423876	GM12878	blood:	n/a	n/a
31	BCLAF1	chr8:11411183-11411681	GM12878	blood:	n/a	n/a
32	BCLAF1	chr8:11418072-11419043	GM12878	blood:	n/a	chr8:11418397-11418405 chr8:11418702-11418710
33	BCLAF1	chr8:11421273-11422842	GM12878	blood:	n/a	chr8:11422235-11422243
34	BCLAF1	chr8:11415996-11417235	GM12878	blood:	n/a	n/a
35	BCLAF1	chr8:11421849-11422547	GM12878	blood:	n/a	chr8:11422235-11422243
36	BCLAF1	chr8:11446898-11447345	GM12878	blood:	n/a	n/a
37	BCLAF1	chr8:11416069-11416680	GM12878	blood:	n/a	n/a
38	BCLAF1	chr8:11411229-11411661	GM12878	blood:	n/a	n/a
39	BCLAF1	chr8:11417919-11418726	GM12878	blood:	n/a	chr8:11418397-11418405 chr8:11418702-11418710
40	BCLAF1	chr8:11424543-11425004	GM12878	blood:	n/a	chr8:11424896-11424905
41	BCLAF1	chr8:11416733-11417157	GM12878	blood:	n/a	n/a
42	BHLHE40	chr8:11415961-11416847	GM12878	blood:	n/a	n/a
43	BHLHE40	chr8:11411275-11411499	K562	blood:	n/a	n/a
44	BHLHE40	chr8:11422000-11422347	HepG2	liver:	n/a	chr8:11422228-11422244
45	BHLHE40	chr8:11446896-11447329	GM12878	blood:	n/a	chr8:11447205-11447221
46	BHLHE40	chr8:11446764-11446808	K562	blood:	n/a	n/a
47	BHLHE40	chr8:11446852-11447323	HepG2	liver:	n/a	chr8:11447205-11447221
48	BHLHE40	chr8:11421987-11422447	GM12878	blood:	n/a	chr8:11422228-11422244
49	BHLHE40	chr8:11424742-11424860	GM12878	blood:	n/a	n/a
50	BHLHE40	chr8:11421982-11422398	K562	blood:	n/a	chr8:11422228-11422244

(count:1770 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11451194-11451244	RPTEC	kidney:	n/a
2	chr8:11451194-11451244	RPTEC	kidney:	n/a
3	chr8:11421337-11421387	ProgFib	skin:	n/a
4	chr8:11418058-11418108	HL-60	blood:	n/a
5	chr8:11422730-11422780	RPTEC	kidney:	n/a
6	chr8:11470690-11470740	HepG2	liver:	n/a
7	chr8:11422730-11422780	HRPEpiC	eye:	n/a
8	chr8:11411487-11411537	HMEC	breast:	n/a
9	chr8:11451041-11451091	NT2-D1	testis:	n/a
10	chr8:11451041-11451091	HPAEpiC	pulmonary alveolar:	n/a
11	chr8:11416365-11416415	IMR90	lung:	fetal
12	chr8:11469136-11469186	LNCaP	prostate:	n/a
13	chr8:11422433-11422483	HL-60	blood:	n/a
14	chr8:11471571-11471621	BJ	skin:	n/a
15	chr8:11471881-11471931	MCF10A-Er-Src	breast:	n/a
16	chr8:11424789-11424839	H1-hESC	embryonic stem cell:	embryo
17	chr8:11474056-11474106	ECC-1	luminal epithelium:	n/a
18	chr8:11468414-11468464	HepG2	liver:	n/a
19	chr8:11422167-11422217	NH-A	brain:	n/a
20	chr8:11471881-11471931	ECC-1	luminal epithelium:	n/a
21	chr8:11417517-11417567	NH-A	brain:	n/a
22	chr8:11471881-11471931	RPTEC	kidney:	n/a
23	chr8:11419707-11419757	SK-N-SH	brain:	n/a
24	chr8:11471054-11471104	AG09319	gingival:	n/a
25	chr8:11471085-11471135	HIPEpiC	eye:	n/a
26	chr8:11451312-11451362	HMEC	breast:	n/a
27	chr8:11424789-11424839	K562	blood:	n/a
28	chr8:11422167-11422217	PrEC	prostate:	n/a
29	chr8:11422433-11422483	Jurkat	blood:	n/a
30	chr8:11413234-11413284	MCF10A-Er-Src	breast:	n/a
31	chr8:11424789-11424839	NT2-D1	testis:	n/a
32	chr8:11413186-11413236	A549	lung:	n/a
33	chr8:11451312-11451362	CMK	blood:	n/a
34	chr8:11422433-11422483	ProgFib	skin:	n/a
35	chr8:11421934-11421984	Caco-2	colon:	n/a
36	chr8:11422433-11422483	NT2-D1	testis:	n/a
37	chr8:11471054-11471104	PANC-1	pancreas:	n/a
38	chr8:11474056-11474106	PrEC	prostate:	n/a
39	chr8:11451194-11451244	HIPEpiC	eye:	n/a
40	chr8:11451312-11451362	LNCaP	prostate:	n/a
41	chr8:11421337-11421387	AG04450	lung:	fetal
42	chr8:11471712-11471762	GM12878	blood:	n/a
43	chr8:11471712-11471762	SKMC	muscle:	n/a
44	chr8:11422167-11422217	PANC-1	pancreas:	n/a
45	chr8:11416365-11416415	SKMC	muscle:	n/a
46	chr8:11469136-11469186	Jurkat	blood:	n/a
47	chr8:11471816-11471866	HepG2	liver:	n/a
48	chr8:11424789-11424839	HEK293	kidney:	embryo
49	chr8:11421934-11421984	GM12878	blood:	n/a
50	chr8:11451041-11451091	NB4	blood:	n/a

(count:55 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:11426984..11428613-chr8:11595138..11596810,2	K562	blood:
2	chr8:11266732..11267234-chr8:11421696..11422273,2	K562	blood:
3	chr8:11459957..11462868-chr8:11472194..11474715,2	K562	blood:
4	chr8:11271149..11271854-chr8:11412541..11413131,2	MCF-7	breast:
5	chr8:11446870..11447723-chr8:11603904..11604616,2	K562	blood:
6	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:
7	chr8:11448479..11450712-chr8:11450788..11453218,2	K562	blood:
8	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
9	chr8:11432773..11433729-chr8:11587844..11588900,10	MCF-7	breast:
10	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
11	chr8:11421685..11422256-chr8:11800840..11801381,2	K562	blood:
12	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:
13	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
14	chr8:11424667..11425261-chr8:11603180..11604185,3	MCF-7	breast:
15	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
16	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
17	chr8:11421707..11422824-chr8:11816126..11817083,9	K562	blood:
18	chr8:11424139..11425217-chr8:11815416..11817027,6	K562	blood:
19	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
20	chr8:11421778..11422656-chr8:11816114..11817045,3	MCF-7	breast:
21	chr8:11433477..11436325-chr8:11437296..11440162,3	MCF-7	breast:
22	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
23	chr8:11448479..11450712-chr8:11450788..11453218,2	K562	blood:
24	chr8:11477779..11479551-chr8:11492372..11494460,2	K562	blood:
25	chr17:62223347..62226304-chr8:11454133..11456749,2	MCF-7	breast:
26	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:
27	chr8:11421781..11422781-chr8:11603539..11604516,9	K562	blood:
28	chr8:11430263..11432062-chr8:11433287..11435276,2	K562	blood:
29	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
30	chr8:11459957..11462868-chr8:11472194..11474715,2	K562	blood:
31	chr8:11448415..11450264-chr8:11463470..11466297,2	K562	blood:
32	chr8:11472906..11474859-chr8:11497875..11500697,2	K562	blood:
33	chr8:11421842..11422772-chr8:11603355..11604431,7	MCF-7	breast:
34	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
35	chr8:11448415..11450264-chr8:11463470..11466297,2	K562	blood:
36	chr8:11331911..11334130-chr8:11408479..11410507,2	MCF-7	breast:
37	chr8:11286965..11287640-chr8:11410754..11411417,2	MCF-7	breast:
38	chr8:11446527..11447418-chr8:11587991..11588812,3	MCF-7	breast:
39	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:
40	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:
41	chr8:11268286..11268904-chr8:11447156..11448012,2	K562	blood:
42	chr8:11418474..11420140-chr8:11572245..11574135,2	K562	blood:
43	chr8:11428917..11429796-chr8:11587902..11588451,3	MCF-7	breast:
44	chr8:11424253..11424822-chr8:11800849..11801372,2	K562	blood:
45	chr8:11433178..11433693-chr8:11488566..11489368,2	MCF-7	breast:
46	chr8:11422237..11424811-chr8:11602615..11604781,2	MCF-7	breast:
47	chr8:11430194..11430977-chr8:11603626..11604340,2	MCF-7	breast:
48	chr8:11462808..11463594-chr8:11587916..11588873,3	MCF-7	breast:
49	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:
50	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:

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

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

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
ENSG00000170983	chromatin interactions
ENSG00000255518	chromatin interactions
ENSG00000254774	chromatin interactions
ENSG00000136573	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000269954	chromatin interactions
ENSG00000154319	chromatin interactions

Extended variants
information (count: 4225 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:4225 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs922484	chr8:11408401-11408402	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561851720	chr8:11408417-11408418	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529129727	chr8:11408462-11408463	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551091197	chr8:11408502-11408503	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs188911641	chr8:11408508-11408509	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558221122	chr8:11408526-11408527	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569293992	chr8:11408530-11408531	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138264421	chr8:11408534-11408535	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149648232	chr8:11408536-11408537	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs922485	chr8:11408606-11408607	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540599126	chr8:11408631-11408632	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181405384	chr8:11408677-11408678	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147318716	chr8:11408685-11408686	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs139473374	chr8:11408719-11408720	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7841310	chr8:11408734-11408735	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367825725	chr8:11408752-11408753	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575250518	chr8:11408767-11408768	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79242590	chr8:11408806-11408807	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557486798	chr8:11408814-11408815	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79566516	chr8:11408815-11408816	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs80327577	chr8:11408820-11408821	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562009229	chr8:11408850-11408851	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544571901	chr8:11408858-11408859	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544087524	chr8:11408867-11408868	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185687439	chr8:11408876-11408877	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs533286289	chr8:11408878-11408879	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377188676	chr8:11408882-11408883	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28581587	chr8:11408888-11408889	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4841554	chr8:11408935-11408936	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571427906	chr8:11408954-11408955	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566736694	chr8:11408981-11408982	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191134211	chr8:11409008-11409009	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563208192	chr8:11409019-11409020	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567657564	chr8:11409026-11409027	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76989863	chr8:11409059-11409060	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563176935	chr8:11409076-11409077	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556504409	chr8:11409084-11409085	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111259411	chr8:11409090-11409091	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144986569	chr8:11409100-11409101	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577913419	chr8:11409101-11409102	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572873081	chr8:11409105-11409106	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540272445	chr8:11409118-11409119	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147167346	chr8:11409124-11409125	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs573987899	chr8:11409127-11409128	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544366110	chr8:11409141-11409142	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73543868	chr8:11409152-11409153	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533187041	chr8:11409159-11409160	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs372340829	chr8:11409195-11409196	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545147555	chr8:11409247-11409248	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs560258159	chr8:11409258-11409259	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

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
Osteosarcoma	21215367	CNVD

Chromatin state (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404000-11411000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr8:11404600-11408600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:11404600-11418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr8:11405400-11409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11405800-11409200	Genic enhancers	Spleen	Spleen
7	chr8:11406000-11417600	Genic enhancers	Primary B cells from cord blood	blood
8	chr8:11406600-11409400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:11406800-11410400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:11407000-11410800	Strong transcription	Dnd41	blood
11	chr8:11407400-11409800	Enhancers	HSMM	muscle
12	chr8:11407600-11410400	Weak transcription	Fetal Kidney	kidney
13	chr8:11407800-11412000	Genic enhancers	GM12878-XiMat	blood
14	chr8:11407800-11412200	Weak transcription	HUVEC	blood vessel
15	chr8:11408200-11408600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11408200-11409400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:11408400-11410000	Enhancers	Fetal Thymus	thymus
18	chr8:11408600-11408800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:11408800-11410200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:11409000-11409200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:11409200-11409400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:11409200-11409400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr8:11409200-11409600	Enhancers	Spleen	Spleen
24	chr8:11409200-11409800	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:11409200-11409800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:11409200-11409800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:11409200-11410000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:11409400-11409800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:11409600-11412800	Weak transcription	Spleen	Spleen
30	chr8:11409800-11410800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:11409800-11410800	Weak transcription	HSMM	muscle
32	chr8:11409800-11411000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:11409800-11414600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:11410000-11410400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:11410000-11410400	Weak transcription	Fetal Thymus	thymus
36	chr8:11410200-11411400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:11410400-11410600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:11410400-11410600	ZNF genes & repeats	Fetal Kidney	kidney
39	chr8:11410400-11411600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:11410400-11419600	Enhancers	Fetal Thymus	thymus
41	chr8:11410600-11411000	Bivalent Enhancer	Colonic Mucosa	Colon
42	chr8:11410600-11415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:11410800-11411400	Enhancers	HSMM	muscle
44	chr8:11410800-11411600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr8:11410800-11411600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:11410800-11411600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:11410800-11413000	Weak transcription	Dnd41	blood
48	chr8:11411000-11411200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr8:11411000-11411200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr8:11411000-11411200	Enhancers	Brain Germinal Matrix	brain

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