Variant report

Variant	nsv1022074
Chromosome Location	chr8:11292256-11394526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3381)
CpG islands
(count:1956)
Chromatin interactive
region (count:70)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3381 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11316723-11316731	K562	blood:	n/a	n/a
2	ATF2	chr8:11363952-11364665	GM12878	blood:	n/a	n/a
3	ATF2	chr8:11352197-11352807	GM12878	blood:	n/a	n/a
4	ATF2	chr8:11348964-11352134	GM12878	blood:	n/a	n/a
5	ATF2	chr8:11324016-11324675	GM12878	blood:	n/a	chr8:11324301-11324315
6	ATF2	chr8:11323929-11324646	GM12878	blood:	n/a	chr8:11324301-11324315
7	ATF2	chr8:11324173-11324549	H1-hESC	embryonic stem cell:	n/a	chr8:11324301-11324315
8	ATF2	chr8:11394202-11396059	GM12878	blood:	n/a	n/a
9	ATF2	chr8:11315230-11315949	GM12878	blood:	n/a	n/a
10	ATF2	chr8:11388905-11389515	GM12878	blood:	n/a	n/a
11	ATF2	chr8:11388209-11388785	GM12878	blood:	n/a	n/a
12	ATF2	chr8:11390126-11391878	GM12878	blood:	n/a	n/a
13	ATF2	chr8:11388241-11388866	GM12878	blood:	n/a	n/a
14	ATF2	chr8:11337099-11338321	GM12878	blood:	n/a	n/a
15	ATF2	chr8:11356089-11356886	GM12878	blood:	n/a	n/a
16	ATF2	chr8:11365337-11366041	GM12878	blood:	n/a	n/a
17	ATF2	chr8:11355112-11355734	GM12878	blood:	n/a	n/a
18	ATF2	chr8:11365507-11365948	GM12878	blood:	n/a	n/a
19	ATF2	chr8:11356061-11357531	GM12878	blood:	n/a	n/a
20	ATF2	chr8:11337106-11338327	GM12878	blood:	n/a	n/a
21	ATF2	chr8:11324764-11325260	GM12878	blood:	n/a	n/a
22	ATF2	chr8:11315280-11316048	GM12878	blood:	n/a	n/a
23	ATF2	chr8:11340465-11342206	GM12878	blood:	n/a	n/a
24	ATF2	chr8:11348914-11352994	GM12878	blood:	n/a	n/a
25	ATF2	chr8:11340857-11341999	GM12878	blood:	n/a	n/a
26	ATF2	chr8:11391138-11391757	GM12878	blood:	n/a	n/a
27	ATF3	chr8:11315223-11315713	A549	lung:	n/a	n/a
28	ATF3	chr8:11324094-11324537	A549	lung:	n/a	chr8:11324303-11324316 chr8:11324303-11324314
29	ATF3	chr8:11324145-11324449	K562	blood:	n/a	chr8:11324303-11324316 chr8:11324303-11324314
30	ATF3	chr8:11315223-11315952	A549	lung:	n/a	n/a
31	BACH1	chr8:11324297-11324869	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr8:11325083-11325410	H1-hESC	embryonic stem cell:	n/a	n/a
33	BATF	chr8:11359070-11359359	GM12878	blood:	n/a	n/a
34	BATF	chr8:11388388-11388690	GM12878	blood:	n/a	n/a
35	BATF	chr8:11367676-11368105	GM12878	blood:	n/a	chr8:11367880-11367890 chr8:11367879-11367890
36	BATF	chr8:11349238-11349987	GM12878	blood:	n/a	chr8:11349740-11349749
37	BATF	chr8:11315333-11315981	GM12878	blood:	n/a	chr8:11315647-11315658
38	BATF	chr8:11349196-11350520	GM12878	blood:	n/a	chr8:11349740-11349749
39	BATF	chr8:11356000-11356783	GM12878	blood:	n/a	chr8:11356048-11356057
40	BATF	chr8:11388334-11388709	GM12878	blood:	n/a	n/a
41	BATF	chr8:11337139-11338361	GM12878	blood:	n/a	chr8:11338197-11338207
42	BATF	chr8:11364181-11364571	GM12878	blood:	n/a	chr8:11364381-11364392
43	BATF	chr8:11365556-11365994	GM12878	blood:	n/a	n/a
44	BATF	chr8:11309352-11309615	GM12878	blood:	n/a	n/a
45	BATF	chr8:11341229-11341780	GM12878	blood:	n/a	n/a
46	BATF	chr8:11367721-11368053	GM12878	blood:	n/a	chr8:11367880-11367890 chr8:11367879-11367890
47	BATF	chr8:11359000-11359403	GM12878	blood:	n/a	n/a
48	BATF	chr8:11315460-11315847	GM12878	blood:	n/a	chr8:11315647-11315658
49	BATF	chr8:11386607-11387015	GM12878	blood:	n/a	n/a
50	BATF	chr8:11306463-11306721	GM12878	blood:	n/a	n/a

(count:1956 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11351135-11351185	HEK293	kidney:	embryo
2	chr8:11324327-11324377	BE2_C	brain:	n/a
3	chr8:11302197-11302247	HRPEpiC	eye:	n/a
4	chr8:11324048-11324098	HEK293	kidney:	embryo
5	chr8:11351135-11351185	HEK293	kidney:	embryo
6	chr8:11324327-11324377	BE2_C	brain:	n/a
7	chr8:11302197-11302247	HRPEpiC	eye:	n/a
8	chr8:11324048-11324098	HEK293	kidney:	embryo
9	chr8:11331707-11331757	HEK293	kidney:	embryo
10	chr8:11296980-11297030	HCT-116	colon:	n/a
11	chr8:11351846-11351896	NHDF-neo	bronchial:	n/a
12	chr8:11302030-11302080	HepG2	liver:	n/a
13	chr8:11351846-11351896	BE2_C	brain:	n/a
14	chr8:11327014-11327064	HepG2	liver:	n/a
15	chr8:11351846-11351896	AoSMC	blood vessel:	n/a
16	chr8:11304273-11304323	HCPEpiC	choroid plexus:	n/a
17	chr8:11324446-11324496	AoSMC	blood vessel:	n/a
18	chr8:11324687-11324737	SAEC	small airway:	n/a
19	chr8:11324448-11324498	HCPEpiC	choroid plexus:	n/a
20	chr8:11324687-11324737	RPTEC	kidney:	n/a
21	chr8:11350297-11350347	CMK	blood:	n/a
22	chr8:11366745-11366795	NHBE	bronchial:	n/a
23	chr8:11303039-11303089	HL-60	blood:	n/a
24	chr8:11311868-11311918	MCF-7	breast:	n/a
25	chr8:11331707-11331757	LNCaP	prostate:	n/a
26	chr8:11324817-11324867	H1-hESC	embryonic stem cell:	embryo
27	chr8:11324048-11324098	NB4	blood:	n/a
28	chr8:11351507-11351557	A549	lung:	n/a
29	chr8:11320112-11320162	NB4	blood:	n/a
30	chr8:11324446-11324496	NT2-D1	testis:	n/a
31	chr8:11324687-11324737	SK-N-MC	brain:	n/a
32	chr8:11351507-11351557	ECC-1	luminal epithelium:	n/a
33	chr8:11311868-11311918	H1-hESC	embryonic stem cell:	embryo
34	chr8:11350297-11350347	PFSK-1	brain:	n/a
35	chr8:11303828-11303878	AG10803	skin:	n/a
36	chr8:11324327-11324377	SK-N-SH	brain:	n/a
37	chr8:11302983-11303033	HCT-116	colon:	n/a
38	chr8:11350297-11350347	SK-N-MC	brain:	n/a
39	chr8:11350853-11350903	HIPEpiC	eye:	n/a
40	chr8:11324666-11324716	HCF	heart:	n/a
41	chr8:11304273-11304323	GM12878	blood:	n/a
42	chr8:11324806-11324856	HepG2	liver:	n/a
43	chr8:11324244-11324294	SKMC	muscle:	n/a
44	chr8:11324048-11324098	AG04450	lung:	fetal
45	chr8:11327014-11327064	HMEC	breast:	n/a
46	chr8:11351571-11351621	HRCEpiC	kidney:	n/a
47	chr8:11302243-11302293	HCM	heart:	n/a
48	chr8:11351507-11351557	HRPEpiC	eye:	n/a
49	chr8:11350853-11350903	HCPEpiC	choroid plexus:	n/a
50	chr8:11350853-11350903	K562	blood:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:11358894..11362536-chr8:11363129..11366232,3	K562	blood:
2	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
3	chr8:11337403..11338287-chr8:11411164..11412225,4	MCF-7	breast:
4	chr8:11366572..11369135-chr8:11369191..11372086,2	MCF-7	breast:
5	chr1:113795691..113796561-chr8:11341770..11342616,2	MCF-7	breast:
6	chr7:118857357..118859002-chr8:11343082..11345568,2	MCF-7	breast:
7	chr8:11328896..11331385-chr8:11333353..11335506,3	K562	blood:
8	chr8:11337552..11338252-chr8:11411303..11411805,2	K562	blood:
9	chr8:11291994..11295873-chr8:11300373..11305945,6	K562	blood:
10	chr8:11311333..11313794-chr8:11324898..11327371,2	K562	blood:
11	chr8:11369455..11372316-chr8:11373710..11376704,2	K562	blood:
12	chr8:11389216..11391992-chr8:11394333..11396573,2	MCF-7	breast:
13	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
14	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:
15	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
16	chr8:11306300..11308613-chr8:11308996..11313515,5	K562	blood:
17	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
18	chr8:11299743..11301452-chr8:11307305..11309157,2	MCF-7	breast:
19	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
20	chr8:11370033..11372316-chr8:11374081..11376704,2	K562	blood:
21	chr8:11194174..11194960-chr8:11325192..11325823,2	K562	blood:
22	chr8:11366501..11369054-chr8:11369431..11373497,4	K562	blood:
23	chr8:11268709..11269611-chr8:11315574..11316471,2	K562	blood:
24	chr8:11278797..11280380-chr8:11316966..11319071,2	K562	blood:
25	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:
26	chr8:11322432..11325165-chr8:11325928..11329477,5	MCF-7	breast:
27	chr8:11328896..11331385-chr8:11333353..11335506,3	K562	blood:
28	chr8:11366501..11369054-chr8:11369431..11373497,4	K562	blood:
29	chr8:11324797..11325381-chr8:11337437..11337957,2	MCF-7	breast:
30	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
31	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:
32	chr8:11313788..11316536-chr8:11322548..11325766,4	MCF-7	breast:
33	chr8:11294217..11296027-chr8:11297947..11300867,2	MCF-7	breast:
34	chr8:11362531..11363443-chr8:11587841..11588799,2	MCF-7	breast:
35	chr8:11331911..11334130-chr8:11408479..11410507,2	MCF-7	breast:
36	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
37	chr8:11268366..11270477-chr8:11325534..11327747,2	MCF-7	breast:
38	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:
39	chr8:11313214..11317170-chr8:11317580..11320923,5	K562	blood:
40	chr8:11312294..11314584-chr8:11324898..11327052,2	K562	blood:
41	chr8:11366572..11369135-chr8:11369191..11372086,2	MCF-7	breast:
42	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
43	chr8:11280386..11282841-chr8:11298445..11301046,2	MCF-7	breast:
44	chr8:11297528..11299485-chr8:11309455..11311186,2	K562	blood:
45	chr8:11159367..11162691-chr8:11316510..11321033,4	K562	blood:
46	chr8:11297376..11298167-chr8:11588230..11588817,3	MCF-7	breast:
47	chr8:11273893..11276099-chr8:11313214..11316137,2	MCF-7	breast:
48	chr8:11304077..11306061-chr8:11313210..11316017,2	K562	blood:
49	chr8:11322370..11324874-chr8:11373322..11375759,2	MCF-7	breast:
50	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-148O21.3.1-3	chr8:11302929-11303079	NONHSAT125061
2	lnc-C8orf12-1	chr8:11332959-11333129	ucscGeneNc_uc003wtu_2
3	lnc-RP11-148O21.3.1-3	chr8:11303912-11304130	NONHSAT125061
4	lnc-C8orf12-1	chr8:11333355-11333576	ucscGeneNc_uc003wtu_2
5	lnc-C8orf12-1	chr8:11295945-11296166	NR_026814
6	lnc-C8orf12-1	chr8:11295549-11295719	NONHSAT125056
7	lnc-C8orf12-1	chr8:11292339-11292611	NONHSAT125056
8	lnc-C8orf12-2	chr8:11351678-11352100	NONHSAT125062
9	lnc-C8orf12-1	chr8:11295945-11296166	NONHSAT125056
10	lnc-C8orf12-1	chr8:11329749-11330021	ucscGeneNc_uc003wtu_2
11	lnc-RP11-148O21.3.1-3	chr8:11302086-11302317	NONHSAT125061
12	lnc-C8orf12-1	chr8:11295549-11295719	NR_026814
13	lnc-C8orf12-1	chr8:11295985-11296084	ucscGeneNc_uc003wtu_2
14	lnc-C8orf12-1	chr8:11292339-11292611	NR_026814
15	lnc-C8orf12-1	chr8:11292339-11292510	NONHSAT125054
16	lnc-C8orf12-1	chr8:11328839-11329054	ucscGeneNc_uc003wtu_2
17	lnc-C8orf12-2	chr8:11366659-11367400	NONHSAT125062
18	lnc-RP11-148O21.3.1-3	chr8:11324135-11324244	NONHSAT125061

No data

Variant related genes	Relation type
BLK	TF binding region
FAM167A	TF binding region
BLK	CpG island
FAM167A	CpG island
ENSG00000154319	chromatin interactions
ENSG00000254774	chromatin interactions
ENSG00000136573	chromatin interactions
ENSG00000269954	chromatin interactions

Extended variants
information (count: 5983 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:5983 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181010786	chr8:11292257-11292258	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs560650073	chr8:11292265-11292266	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374693161	chr8:11292269-11292270	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185991615	chr8:11292311-11292312	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569099771	chr8:11292334-11292335	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539726863	chr8:11292343-11292344	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs146820615	chr8:11292365-11292366	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs189054703	chr8:11292369-11292370	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs118087984	chr8:11292379-11292380	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs555475145	chr8:11292389-11292390	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs573773296	chr8:11292399-11292400	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs115866599	chr8:11292400-11292401	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs577969756	chr8:11292403-11292404	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs556707418	chr8:11292405-11292406	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs578076239	chr8:11292412-11292413	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs542721282	chr8:11292413-11292414	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs545706076	chr8:11292433-11292434	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs562494871	chr8:11292448-11292449	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs140647775	chr8:11292450-11292451	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs373999863	chr8:11292475-11292476	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs531640895	chr8:11292488-11292489	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs572911641	chr8:11292497-11292498	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs113334489	chr8:11292504-11292505	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs545287351	chr8:11292529-11292530	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs528976142	chr8:11292540-11292541	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs2280803	chr8:11292542-11292543	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs560065892	chr8:11292543-11292544	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs565471205	chr8:11292576-11292577	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs551275158	chr8:11292594-11292595	Weak transcription Strong transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs78934573	chr8:11292608-11292609	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs533957811	chr8:11292619-11292620	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79325210	chr8:11292643-11292644	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567695284	chr8:11292653-11292654	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538340090	chr8:11292721-11292722	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556356083	chr8:11292732-11292733	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527862212	chr8:11292734-11292735	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs578136505	chr8:11292736-11292737	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138468510	chr8:11292740-11292741	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs554534813	chr8:11292745-11292746	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs78896058	chr8:11292832-11292833	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs115478555	chr8:11292845-11292846	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs73663139	chr8:11292846-11292847	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542695088	chr8:11292888-11292889	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73663140	chr8:11292890-11292891	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562407913	chr8:11292911-11292912	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533185223	chr8:11292933-11292934	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551137663	chr8:11292992-11292993	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7018402	chr8:11293035-11293036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs531008614	chr8:11293059-11293060	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527570886	chr8:11293060-11293061	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
Lung adenocarcinoma	21935476	CNVD
Osteosarcoma	21215367	CNVD
Gastric cancer	22315472	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2263 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11280600-11308800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:11280800-11297600	Weak transcription	Spleen	Spleen
3	chr8:11286000-11295200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:11286200-11306400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:11286600-11296200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:11287400-11296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:11287400-11296400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:11287400-11297600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:11287800-11300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:11287800-11300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:11287800-11313600	Weak transcription	Right Atrium	heart
12	chr8:11288000-11297600	Weak transcription	HSMM	muscle
13	chr8:11288200-11300200	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:11289000-11295400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:11289000-11295600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:11289800-11299600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:11289800-11305800	Weak transcription	Osteobl	bone
18	chr8:11290800-11293000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:11290800-11293800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:11290800-11294000	Enhancers	Fetal Heart	heart
21	chr8:11291000-11292400	Enhancers	Pancreas	Pancrea
22	chr8:11291000-11292600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:11291000-11295000	Enhancers	Fetal Thymus	thymus
24	chr8:11291200-11292800	Enhancers	Gastric	stomach
25	chr8:11291200-11296200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:11291600-11292600	Enhancers	Thymus	Thymus
27	chr8:11291600-11294000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:11291600-11296200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:11291600-11303800	Weak transcription	Brain Angular Gyrus	brain
30	chr8:11291800-11292600	Enhancers	Lung	lung
31	chr8:11291800-11300800	Weak transcription	NHEK	skin
32	chr8:11292000-11295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:11292200-11292600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:11292200-11296000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:11292400-11313000	Weak transcription	Pancreas	Pancrea
36	chr8:11292600-11292800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr8:11292600-11293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:11292600-11295200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:11292600-11296400	Weak transcription	Thymus	Thymus
40	chr8:11292600-11302200	Weak transcription	Lung	lung
41	chr8:11292800-11293000	Bivalent Enhancer	HepG2	liver
42	chr8:11292800-11297400	Weak transcription	Gastric	stomach
43	chr8:11293000-11293400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:11293400-11294000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:11293600-11294000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:11293600-11294400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:11293800-11294200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:11293800-11297200	Weak transcription	Right Ventricle	heart
49	chr8:11294000-11295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:11294000-11296400	Weak transcription	Brain Inferior Temporal Lobe	brain

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