Variant report

Variant	nsv1032195
Chromosome Location	chr8:11420541-11480692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1556)
CpG islands
(count:1282)
Chromatin interactive
region (count:47)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1556 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11470104-11470547	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:11446987-11447268	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11472167-11472558	HepG2	liver:	n/a	n/a
4	ATF1	chr8:11473011-11473046	K562	blood:	n/a	n/a
5	ATF2	chr8:11446925-11447218	GM12878	blood:	n/a	n/a
6	ATF2	chr8:11421419-11423115	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	chr8:11421987-11422609	GM12878	blood:	n/a	n/a
10	BACH1	chr8:11463287-11463625	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr8:11446945-11447320	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr8:11422005-11422013	K562	blood:	n/a	n/a
13	BACH1	chr8:11421479-11422408	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL3	chr8:11421891-11422340	A549	lung:	n/a	chr8:11422235-11422243
15	BCL3	chr8:11422664-11423817	GM12878	blood:	n/a	n/a
16	BCL3	chr8:11423267-11423719	GM12878	blood:	n/a	n/a
17	BCL3	chr8:11421867-11422432	GM12878	blood:	n/a	chr8:11422235-11422243
18	BCL3	chr8:11421305-11422586	GM12878	blood:	n/a	chr8:11422235-11422243
19	BCLAF1	chr8:11421849-11422547	GM12878	blood:	n/a	chr8:11422235-11422243
20	BCLAF1	chr8:11421273-11422842	GM12878	blood:	n/a	chr8:11422235-11422243
21	BCLAF1	chr8:11423452-11423876	GM12878	blood:	n/a	n/a
22	BCLAF1	chr8:11424543-11425004	GM12878	blood:	n/a	chr8:11424896-11424905
23	BCLAF1	chr8:11446898-11447345	GM12878	blood:	n/a	n/a
24	BHLHE40	chr8:11421982-11422398	K562	blood:	n/a	chr8:11422228-11422244
25	BHLHE40	chr8:11422000-11422347	HepG2	liver:	n/a	chr8:11422228-11422244
26	BHLHE40	chr8:11446764-11446808	K562	blood:	n/a	n/a
27	BHLHE40	chr8:11446852-11447323	HepG2	liver:	n/a	chr8:11447205-11447221
28	BHLHE40	chr8:11447046-11447259	K562	blood:	n/a	chr8:11447205-11447221
29	BHLHE40	chr8:11424742-11424860	GM12878	blood:	n/a	n/a
30	BHLHE40	chr8:11446896-11447329	GM12878	blood:	n/a	chr8:11447205-11447221
31	BHLHE40	chr8:11421987-11422447	GM12878	blood:	n/a	chr8:11422228-11422244
32	BRCA1	chr8:11422113-11422187	GM12878	blood:	n/a	n/a
33	BRCA1	chr8:11446830-11447356	HepG2	liver:	n/a	n/a
34	BRCA1	chr8:11447027-11447358	H1-hESC	embryonic stem cell:	n/a	n/a
35	BRCA1	chr8:11425163-11425294	HepG2	liver:	n/a	n/a
36	BRCA1	chr8:11422185-11422377	HepG2	liver:	n/a	n/a
37	BRCA1	chr8:11470276-11470745	HepG2	liver:	n/a	n/a
38	BRCA1	chr8:11422118-11422381	Hela-S3	cervix:	n/a	n/a
39	CBX3	chr8:11446906-11447230	K562	blood:	n/a	n/a
40	CBX3	chr8:11421976-11422365	K562	blood:	n/a	n/a
41	CCNT2	chr8:11422032-11422430	K562	blood:	n/a	n/a
42	CEBPB	chr8:11429395-11429804	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr8:11433042-11433213	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr8:11446939-11447141	K562	blood:	n/a	n/a
45	CEBPB	chr8:11448250-11448602	A549	lung:	n/a	chr8:11448432-11448443
46	CEBPB	chr8:11425141-11425455	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr8:11448254-11448528	HepG2	liver:	n/a	chr8:11448432-11448443
48	CEBPB	chr8:11448301-11448573	K562	blood:	n/a	chr8:11448432-11448443
49	CEBPB	chr8:11469411-11469486	HepG2	liver:	n/a	chr8:11469451-11469462
50	CEBPB	chr8:11448272-11448603	IMR90	lung:	n/a	chr8:11448432-11448443

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11422167-11422217	K562	blood:	n/a
2	chr8:11422167-11422217	K562	blood:	n/a
3	chr8:11470690-11470740	SK-N-MC	brain:	n/a
4	chr8:11470690-11470740	AG09309	skin:	n/a
5	chr8:11422730-11422780	HCT-116	colon:	n/a
6	chr8:11471816-11471866	U87	brain:	n/a
7	chr8:11451041-11451091	HUVEC	blood vessel:	n/a
8	chr8:11471054-11471104	GM12891	blood:	n/a
9	chr8:11421594-11421644	BJ	skin:	n/a
10	chr8:11422730-11422780	HAEpiC	amniotic membrane:	n/a
11	chr8:11471395-11471445	HIPEpiC	eye:	n/a
12	chr8:11471712-11471762	HEEpiC	esophagus:	n/a
13	chr8:11471712-11471762	Jurkat	blood:	n/a
14	chr8:11451041-11451091	HRPEpiC	eye:	n/a
15	chr8:11451194-11451244	LNCaP	prostate:	n/a
16	chr8:11469136-11469186	HAEpiC	amniotic membrane:	n/a
17	chr8:11471395-11471445	GM12891	blood:	n/a
18	chr8:11422167-11422217	PFSK-1	brain:	n/a
19	chr8:11422167-11422217	MCF10A-Er-Src	breast:	n/a
20	chr8:11469136-11469186	AoSMC	blood vessel:	n/a
21	chr8:11470690-11470740	PANC-1	pancreas:	n/a
22	chr8:11421337-11421387	SK-N-SH	brain:	n/a
23	chr8:11421934-11421984	HCM	heart:	n/a
24	chr8:11471054-11471104	HCPEpiC	choroid plexus:	n/a
25	chr8:11421337-11421387	HRE	kidney:	n/a
26	chr8:11471816-11471866	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:11471571-11471621	AG09319	gingival:	n/a
28	chr8:11469136-11469186	HMEC	breast:	n/a
29	chr8:11471571-11471621	SK-N-SH	brain:	n/a
30	chr8:11421934-11421984	HRCEpiC	kidney:	n/a
31	chr8:11470690-11470740	HMEC	breast:	n/a
32	chr8:11424789-11424839	HUVEC	blood vessel:	n/a
33	chr8:11469136-11469186	SKMC	muscle:	n/a
34	chr8:11469136-11469186	HL-60	blood:	n/a
35	chr8:11471395-11471445	ProgFib	skin:	n/a
36	chr8:11469136-11469186	GM06990	blood:	n/a
37	chr8:11471712-11471762	PrEC	prostate:	n/a
38	chr8:11424789-11424839	AoSMC	blood vessel:	n/a
39	chr8:11471085-11471135	Caco-2	colon:	n/a
40	chr8:11471395-11471445	U87	brain:	n/a
41	chr8:11422433-11422483	HCPEpiC	choroid plexus:	n/a
42	chr8:11421594-11421644	GM06990	blood:	n/a
43	chr8:11471085-11471135	HL-60	blood:	n/a
44	chr8:11471881-11471931	GM19239	blood:	n/a
45	chr8:11474056-11474106	BE2_C	brain:	n/a
46	chr8:11471395-11471445	PrEC	prostate:	n/a
47	chr8:11451194-11451244	GM19239	blood:	n/a
48	chr8:11471816-11471866	ProgFib	skin:	n/a
49	chr8:11470690-11470740	PFSK-1	brain:	n/a
50	chr8:11471395-11471445	PFSK-1	brain:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11428917..11429796-chr8:11587902..11588451,3	MCF-7	breast:
2	chr8:11462808..11463594-chr8:11587916..11588873,3	MCF-7	breast:
3	chr8:11430263..11432062-chr8:11433287..11435276,2	K562	blood:
4	chr8:11433477..11436325-chr8:11437296..11440162,3	MCF-7	breast:
5	chr8:11422289..11424857-chr8:11598109..11600598,2	MCF-7	breast:
6	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
7	chr8:11424139..11425217-chr8:11815416..11817027,6	K562	blood:
8	chr8:11421778..11422656-chr8:11816114..11817045,3	MCF-7	breast:
9	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
10	chr8:11421842..11422772-chr8:11603355..11604431,7	MCF-7	breast:
11	chr8:11448415..11450264-chr8:11463470..11466297,2	K562	blood:
12	chr8:11424324..11425489-chr8:11573800..11574792,3	MCF-7	breast:
13	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
14	chr8:11448479..11450712-chr8:11450788..11453218,2	K562	blood:
15	chr8:11266732..11267234-chr8:11421696..11422273,2	K562	blood:
16	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:
17	chr8:11444228..11446493-chr8:11461211..11463347,2	K562	blood:
18	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:
19	chr8:11426984..11428613-chr8:11595138..11596810,2	K562	blood:
20	chr8:11446870..11447723-chr8:11603904..11604616,2	K562	blood:
21	chr8:11459957..11462868-chr8:11472194..11474715,2	K562	blood:
22	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:
23	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
24	chr8:11268286..11268904-chr8:11447156..11448012,2	K562	blood:
25	chr8:11424667..11425261-chr8:11603180..11604185,3	MCF-7	breast:
26	chr8:11472906..11474859-chr8:11497875..11500697,2	K562	blood:
27	chr8:11421685..11422256-chr8:11800840..11801381,2	K562	blood:
28	chr8:11421707..11422824-chr8:11816126..11817083,9	K562	blood:
29	chr8:11424253..11424822-chr8:11800849..11801372,2	K562	blood:
30	chr8:11430122..11430693-chr8:11587796..11588653,2	MCF-7	breast:
31	chr8:11421781..11422781-chr8:11603539..11604516,9	K562	blood:
32	chr8:11448415..11450264-chr8:11463470..11466297,2	K562	blood:
33	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
34	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
35	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
36	chr8:11444228..11446493-chr8:11461211..11463347,2	K562	blood:
37	chr8:11430194..11430977-chr8:11603626..11604340,2	MCF-7	breast:
38	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
39	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:
40	chr8:11432773..11433729-chr8:11587844..11588900,10	MCF-7	breast:
41	chr8:11422237..11424811-chr8:11602615..11604781,2	MCF-7	breast:
42	chr8:11477779..11479551-chr8:11492372..11494460,2	K562	blood:
43	chr8:11448479..11450712-chr8:11450788..11453218,2	K562	blood:
44	chr8:11433178..11433693-chr8:11488566..11489368,2	MCF-7	breast:
45	chr8:11446527..11447418-chr8:11587991..11588812,3	MCF-7	breast:
46	chr17:62223347..62226304-chr8:11454133..11456749,2	MCF-7	breast:
47	chr8:11459957..11462868-chr8:11472194..11474715,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BLK-1	chr8:11437979-11438850	NR_040035
2	lnc-BLK-1	chr8:11435879-11436150	NR_040035
3	lnc-BLK-1	chr8:11437979-11438851	XLOC_006711
4	lnc-BLK-1	chr8:11434044-11434826	NR_040035
5	lnc-BLK-1	chr8:11433822-11434826	ENSG00000170983
6	lnc-BLK-1	chr8:11437979-11438851	ENSG00000170983
7	lnc-BLK-1	chr8:11434044-11434826	XLOC_006711
8	lnc-BLK-1	chr8:11435879-11436150	ENSG00000170983
9	lnc-BLK-1	chr8:11435879-11436150	XLOC_006711

No data

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

Extended variants
information (count: 3165 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:3165 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546426170	chr8:11420554-11420555	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs373565757	chr8:11420559-11420560	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs577905338	chr8:11420560-11420561	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs374263505	chr8:11420567-11420568	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs568054323	chr8:11420581-11420582	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs187992701	chr8:11420601-11420602	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs376956553	chr8:11420607-11420608	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs145686279	chr8:11420609-11420610	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs146495994	chr8:11420618-11420619	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs569196746	chr8:11420628-11420629	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs182009734	chr8:11420643-11420644	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs73545895	chr8:11420644-11420645	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs200818082	chr8:11420645-11420646	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs377201505	chr8:11420646-11420647	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs369976913	chr8:11420665-11420666	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs540711501	chr8:11420688-11420689	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555448343	chr8:11420751-11420752	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs187376829	chr8:11420759-11420760	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs544218896	chr8:11420763-11420764	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs562804662	chr8:11420778-11420779	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs2251200	chr8:11420779-11420780	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545408081	chr8:11420781-11420782	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs375340037	chr8:11420816-11420817	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs560735299	chr8:11420870-11420871	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs190098141	chr8:11420886-11420887	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs11776201	chr8:11420898-11420899	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149955118	chr8:11420918-11420919	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs73663167	chr8:11420930-11420931	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs561770329	chr8:11420946-11420947	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs181772997	chr8:11420952-11420953	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs550580274	chr8:11420964-11420965	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs76404565	chr8:11420989-11420990	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs539716504	chr8:11420995-11420996	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs186595805	chr8:11420996-11420997	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs190328168	chr8:11421008-11421009	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs2279169	chr8:11421016-11421017	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112735227	chr8:11421021-11421022	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs374755882	chr8:11421024-11421025	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs543616789	chr8:11421028-11421029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs573809778	chr8:11421071-11421072	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs570371846	chr8:11421083-11421084	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs74586510	chr8:11421086-11421087	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs556119563	chr8:11421137-11421138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs577996296	chr8:11421174-11421175	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs62490890	chr8:11421254-11421255	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs369292852	chr8:11421290-11421291	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs572555377	chr8:11421292-11421293	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs543265672	chr8:11421297-11421298	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs561733314	chr8:11421302-11421303	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs13248757	chr8:11421321-11421322	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11404800-11421800	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11416200-11421600	Weak transcription	Spleen	Spleen
3	chr8:11417000-11421000	Strong transcription	GM12878-XiMat	blood
4	chr8:11417000-11421600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:11418200-11421200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:11418400-11420800	Strong transcription	Dnd41	blood
7	chr8:11420200-11421000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:11420200-11421200	Weak transcription	Pancreas	Pancrea
9	chr8:11420600-11421000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:11420600-11421000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:11420800-11421000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
12	chr8:11420800-11421200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr8:11420800-11421800	Bivalent Enhancer	Fetal Thymus	thymus
14	chr8:11420800-11422400	Weak transcription	Dnd41	blood
15	chr8:11421000-11421200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:11421000-11421200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:11421000-11421200	Genic enhancers	GM12878-XiMat	blood
18	chr8:11421000-11421400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:11421000-11421800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr8:11421000-11421800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:11421000-11422200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:11421000-11422600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr8:11421200-11421400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:11421200-11421400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:11421200-11421400	Active TSS	Primary hematopoietic stem cells	blood
26	chr8:11421200-11421400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:11421200-11421400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:11421200-11421400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:11421200-11421400	Enhancers	Pancreas	Pancrea
30	chr8:11421200-11421400	Bivalent Enhancer	HepG2	liver
31	chr8:11421200-11421600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr8:11421200-11421600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:11421200-11421600	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr8:11421200-11421800	Enhancers	Primary B cells from cord blood	blood
35	chr8:11421200-11421800	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr8:11421200-11421800	Enhancers	GM12878-XiMat	blood
37	chr8:11421200-11422200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:11421200-11422400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr8:11421200-11422600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr8:11421200-11422600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:11421200-11422600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:11421200-11422800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr8:11421200-11422800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:11421400-11421600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:11421400-11421600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr8:11421400-11421600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr8:11421400-11421600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:11421400-11421600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr8:11421400-11421600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr8:11421400-11421600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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