Variant report

Variant	nsv889410
Chromosome Location	chr7:149460447-149500992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1432)
CpG islands
(count:2383)
Chromatin interactive
region (count:78)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1432 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:149468988-149469116	K562	blood:	n/a	n/a
2	ARID3A	chr7:149487148-149487379	K562	blood:	n/a	n/a
3	ARID3A	chr7:149497005-149497192	HepG2	liver:	n/a	n/a
4	ATF3	chr7:149487245-149487558	K562	blood:	n/a	n/a
5	BACH1	chr7:149484599-149484951	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:149487050-149487759	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:149468291-149468689	K562	blood:	n/a	n/a
8	BACH1	chr7:149470828-149470909	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:149471378-149471536	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:149461687-149463251	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:149470146-149470517	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCLAF1	chr7:149468749-149469265	K562	blood:	n/a	chr7:149468998-149469007
13	BHLHE40	chr7:149471336-149471864	K562	blood:	n/a	n/a
14	BHLHE40	chr7:149487231-149487628	K562	blood:	n/a	n/a
15	BHLHE40	chr7:149468449-149469169	K562	blood:	n/a	n/a
16	BHLHE40	chr7:149473430-149473809	K562	blood:	n/a	n/a
17	BHLHE40	chr7:149468628-149469161	GM12878	blood:	n/a	n/a
18	BHLHE40	chr7:149489080-149489398	K562	blood:	n/a	n/a
19	BHLHE40	chr7:149473086-149473105	K562	blood:	n/a	n/a
20	BHLHE40	chr7:149485665-149486197	K562	blood:	n/a	n/a
21	BHLHE40	chr7:149470761-149470937	K562	blood:	n/a	n/a
22	BHLHE40	chr7:149469561-149469696	K562	blood:	n/a	n/a
23	BHLHE40	chr7:149493429-149493435	K562	blood:	n/a	n/a
24	BHLHE40	chr7:149480644-149480682	K562	blood:	n/a	n/a
25	BHLHE40	chr7:149474321-149474331	K562	blood:	n/a	n/a
26	BHLHE40	chr7:149475405-149475739	K562	blood:	n/a	n/a
27	BHLHE40	chr7:149484475-149485102	K562	blood:	n/a	n/a
28	BHLHE40	chr7:149486849-149486853	K562	blood:	n/a	n/a
29	BHLHE40	chr7:149485581-149486169	HepG2	liver:	n/a	n/a
30	BHLHE40	chr7:149496880-149497163	K562	blood:	n/a	n/a
31	BHLHE40	chr7:149470191-149470441	K562	blood:	n/a	chr7:149470279-149470295
32	BRCA1	chr7:149468704-149468713	GM12878	blood:	n/a	n/a
33	BRCA1	chr7:149487336-149487411	H1-hESC	embryonic stem cell:	n/a	n/a
34	CBX3	chr7:149468749-149469600	K562	blood:	n/a	n/a
35	CBX3	chr7:149484431-149485045	K562	blood:	n/a	n/a
36	CBX3	chr7:149487111-149487573	K562	blood:	n/a	n/a
37	CCNT2	chr7:149487187-149487786	K562	blood:	n/a	n/a
38	CCNT2	chr7:149497332-149497377	K562	blood:	n/a	n/a
39	CCNT2	chr7:149484506-149485004	K562	blood:	n/a	chr7:149484696-149484705
40	CCNT2	chr7:149462762-149463076	K562	blood:	n/a	n/a
41	CCNT2	chr7:149473416-149473865	K562	blood:	n/a	n/a
42	CCNT2	chr7:149468580-149469746	K562	blood:	n/a	chr7:149469469-149469478
43	CCNT2	chr7:149470128-149471821	K562	blood:	n/a	chr7:149470896-149470905
44	CCNT2	chr7:149491898-149491995	K562	blood:	n/a	n/a
45	CEBPB	chr7:149478325-149478436	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr7:149478260-149478531	Hela-S3	cervix:	n/a	chr7:149478428-149478441
47	CEBPB	chr7:149478262-149478545	K562	blood:	n/a	chr7:149478428-149478441
48	CEBPB	chr7:149471395-149471473	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr7:149462572-149462933	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr7:149478317-149478589	HepG2	liver:	n/a	chr7:149478428-149478441

(count:2383 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149461763-149461813	GM19239	blood:	n/a
2	chr7:149465477-149465527	MCF-7	breast:	n/a
3	chr7:149472049-149472099	NH-A	brain:	n/a
4	chr7:149464905-149464955	AoSMC	blood vessel:	n/a
5	chr7:149461763-149461813	GM19239	blood:	n/a
6	chr7:149465477-149465527	MCF-7	breast:	n/a
7	chr7:149472049-149472099	NH-A	brain:	n/a
8	chr7:149464905-149464955	AoSMC	blood vessel:	n/a
9	chr7:149470694-149470744	BJ	skin:	n/a
10	chr7:149487677-149487727	GM12878	blood:	n/a
11	chr7:149487749-149487799	NH-A	brain:	n/a
12	chr7:149473097-149473147	SK-N-SH	brain:	n/a
13	chr7:149464905-149464955	GM06990	blood:	n/a
14	chr7:149468365-149468415	AG04449	skin:	fetal
15	chr7:149470284-149470334	PFSK-1	brain:	n/a
16	chr7:149467944-149467994	T-47D	breast:	n/a
17	chr7:149460972-149461022	HRE	kidney:	n/a
18	chr7:149463219-149463269	HRE	kidney:	n/a
19	chr7:149468365-149468415	K562	blood:	n/a
20	chr7:149487677-149487727	SAEC	small airway:	n/a
21	chr7:149489783-149489833	IMR90	lung:	fetal
22	chr7:149467944-149467994	HUVEC	blood vessel:	n/a
23	chr7:149467944-149467994	Jurkat	blood:	n/a
24	chr7:149468989-149469039	MCF10A-Er-Src	breast:	n/a
25	chr7:149473097-149473147	MCF10A-Er-Src	breast:	n/a
26	chr7:149468989-149469039	HepG2	liver:	n/a
27	chr7:149461763-149461813	IMR90	lung:	fetal
28	chr7:149462836-149462886	U87	brain:	n/a
29	chr7:149489783-149489833	PrEC	prostate:	n/a
30	chr7:149470284-149470334	MCF10A-Er-Src	breast:	n/a
31	chr7:149468989-149469039	NB4	blood:	n/a
32	chr7:149468994-149469044	AG09319	gingival:	n/a
33	chr7:149489783-149489833	BE2_C	brain:	n/a
34	chr7:149463219-149463269	H1-hESC	embryonic stem cell:	embryo
35	chr7:149471884-149471934	BJ	skin:	n/a
36	chr7:149468365-149468415	HNPCEpiC	eye:	n/a
37	chr7:149485740-149485790	AG04450	lung:	fetal
38	chr7:149476924-149476974	HRE	kidney:	n/a
39	chr7:149470694-149470744	HCM	heart:	n/a
40	chr7:149484985-149485035	PrEC	prostate:	n/a
41	chr7:149484985-149485035	CMK	blood:	n/a
42	chr7:149460972-149461022	BJ	skin:	n/a
43	chr7:149471044-149471094	GM19239	blood:	n/a
44	chr7:149473097-149473147	ProgFib	skin:	n/a
45	chr7:149468365-149468415	HRE	kidney:	n/a
46	chr7:149487677-149487727	HCT-116	colon:	n/a
47	chr7:149467944-149467994	BJ	skin:	n/a
48	chr7:149468989-149469039	HIPEpiC	eye:	n/a
49	chr7:149464905-149464955	HEK293	kidney:	embryo
50	chr7:149468994-149469044	HIPEpiC	eye:	n/a

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:149475777..149478196-chr7:149495163..149497885,2	K562	blood:
2	chr7:149473373..149475721-chr7:149519077..149521805,2	MCF-7	breast:
3	chr7:149359887..149360749-chr7:149496598..149497119,2	MCF-7	breast:
4	chr7:149466134..149470595-chr7:149532425..149537706,5	MCF-7	breast:
5	chr7:149487412..149490099-chr7:149499430..149501914,2	K562	blood:
6	chr7:149469665..149471242-chr7:149492952..149494694,2	K562	blood:
7	chr7:149158020..149159528-chr7:149468647..149470369,2	K562	blood:
8	chr7:149478286..149483291-chr7:149484543..149488292,6	K562	blood:
9	chr7:149359416..149360312-chr7:149486909..149487857,5	K562	blood:
10	chr7:149479781..149482192-chr7:149551108..149553438,2	MCF-7	breast:
11	chr7:149416557..149419178-chr7:149484233..149488617,3	K562	blood:
12	chr7:149441362..149443055-chr7:149460241..149462423,2	MCF-7	breast:
13	chr7:149437611..149439683-chr7:149477013..149479789,2	K562	blood:
14	chr7:149476551..149479010-chr7:149504345..149507000,2	K562	blood:
15	chr7:149468811..149471165-chr7:149492241..149495834,3	K562	blood:
16	chr7:149469487..149472454-chr7:149520687..149524368,4	MCF-7	breast:
17	chr7:149320616..149324173-chr7:149466840..149469728,4	K562	blood:
18	chr7:149484679..149488642-chr7:149489546..149492770,6	MCF-7	breast:
19	chr7:149491656..149493796-chr7:149550496..149553442,2	MCF-7	breast:
20	chr7:149486923..149488789-chr7:149516308..149518311,2	MCF-7	breast:
21	chr7:149455232..149457688-chr7:149462668..149464925,2	MCF-7	breast:
22	chr7:149359338..149360344-chr7:149496249..149497433,4	K562	blood:
23	chr7:149484679..149488642-chr7:149489546..149492770,6	MCF-7	breast:
24	chr7:149459407..149462884-chr7:149469034..149471281,3	MCF-7	breast:
25	chr7:149499623..149502288-chr7:149502769..149505265,4	K562	blood:
26	chr7:149419111..149421649-chr7:149493906..149495599,2	K562	blood:
27	chr7:149468983..149471079-chr7:149493148..149495214,3	MCF-7	breast:
28	chr7:149418945..149421003-chr7:149472021..149474839,2	K562	blood:
29	chr7:149489220..149491723-chr7:149504339..149506284,2	K562	blood:
30	chr7:149467684..149471867-chr7:149482733..149487472,6	K562	blood:
31	chr7:149459369..149463521-chr7:149463788..149469028,7	MCF-7	breast:
32	chr7:149473801..149475401-chr7:149492673..149494757,2	MCF-7	breast:
33	chr7:149475035..149477131-chr7:149479756..149481551,3	K562	blood:
34	chr7:149487842..149489605-chr7:149493457..149495726,2	MCF-7	breast:
35	chr7:149359595..149361550-chr7:149476876..149478987,2	K562	blood:
36	chr7:149425054..149427794-chr7:149470002..149471582,2	MCF-7	breast:
37	chr7:149450723..149451333-chr7:149487310..149488062,2	K562	blood:
38	chr7:149439409..149439997-chr7:149486897..149487877,2	K562	blood:
39	chr7:149468652..149471157-chr7:150776207..150778297,2	MCF-7	breast:
40	chr10:8096209..8098721-chr7:149471620..149473923,2	MCF-7	breast:
41	chr7:149487460..149489155-chr7:149505183..149508102,2	K562	blood:
42	chr7:149484191..149484692-chr7:149580431..149580931,2	K562	blood:
43	chr7:149332468..149334868-chr7:149493693..149495718,2	K562	blood:
44	chr7:149487412..149490099-chr7:149499430..149501914,2	K562	blood:
45	chr7:149473801..149475401-chr7:149492673..149494757,2	MCF-7	breast:
46	chr7:149482558..149484845-chr7:149519799..149522299,2	K562	blood:
47	chr7:149471379..149473903-chr7:149490121..149491823,3	MCF-7	breast:
48	chr7:149321909..149324897-chr7:149481416..149483089,2	K562	blood:
49	chr7:149448586..149450426-chr7:149459263..149461454,2	K562	blood:
50	chr7:149459369..149463521-chr7:149463788..149469028,7	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF862-1	chr7:149473524-149473617	ENSG00000197558.7
2	lnc-ZNF862-1	chr7:149494360-149494432	NONHSAT124049
3	lnc-KRBA1-2	chr7:149470297-149473130	NONHSAT124042
4	lnc-ZNF862-1	chr7:149479270-149479387	ENSG00000197558.7
5	lnc-ZNF862-1	chr7:149493695-149493834	NONHSAT124049
6	lnc-ZNF862-1	chr7:149475870-149476028	ENSG00000197558.7
7	lnc-ZNF862-1	chr7:149480195-149480379	ENSG00000197558.7
8	lnc-ZNF862-1	chr7:149496922-149497125	NONHSAT124049

No data

Variant related genes	Relation type
SSPO	TF binding region
ZNF467	TF binding region
SSPO	CpG island
ZNF467	CpG island
ENSG00000164896	chromatin interactions
ENSG00000204934	chromatin interactions
ENSG00000106479	chromatin interactions
ENSG00000133624	chromatin interactions
ENSG00000171130	chromatin interactions
ENSG00000181444	chromatin interactions
ENSG00000133619	chromatin interactions
ENSG00000107485	chromatin interactions
ENSG00000196453	chromatin interactions
ENSG00000197558	chromatin interactions

Extended variants
information (count: 2250 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2250 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10215065	chr7:149460447-149460448	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534968515	chr7:149460503-149460504	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551490764	chr7:149460552-149460553	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183970623	chr7:149460559-149460560	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148988440	chr7:149460597-149460598	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557566845	chr7:149460610-149460611	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574317502	chr7:149460613-149460614	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536534141	chr7:149460648-149460649	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555784844	chr7:149460651-149460652	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553584834	chr7:149460673-149460674	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573469457	chr7:149460695-149460696	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145645556	chr7:149460715-149460716	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564561373	chr7:149460747-149460748	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187092330	chr7:149460751-149460752	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577219650	chr7:149460784-149460785	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545254673	chr7:149460863-149460864	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529948811	chr7:149460902-149460903	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192777292	chr7:149460914-149460915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560352824	chr7:149460937-149460938	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532317018	chr7:149460966-149460967	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs855665	chr7:149460973-149460974	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185152616	chr7:149460986-149460987	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531009712	chr7:149461033-149461034	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190080622	chr7:149461047-149461048	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376573568	chr7:149461099-149461100	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567765897	chr7:149461107-149461108	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs182211189	chr7:149461115-149461116	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553307541	chr7:149461125-149461126	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567125247	chr7:149461126-149461127	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185593718	chr7:149461140-149461141	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530325785	chr7:149461170-149461171	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577210498	chr7:149461173-149461174	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558117536	chr7:149461188-149461189	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189484186	chr7:149461255-149461256	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543901749	chr7:149461335-149461336	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373244323	chr7:149461344-149461345	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs180763629	chr7:149461368-149461369	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117383860	chr7:149461399-149461400	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73168052	chr7:149461428-149461429	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73168053	chr7:149461487-149461488	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185205901	chr7:149461504-149461505	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199797137	chr7:149461506-149461507	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375127100	chr7:149461520-149461521	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371444717	chr7:149461536-149461537	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371111104	chr7:149461585-149461586	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs855666	chr7:149461593-149461594	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565268761	chr7:149461645-149461646	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374829113	chr7:149461657-149461658	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530972659	chr7:149461672-149461673	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531754070	chr7:149461694-149461695	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1400 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149448600-149461000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:149448600-149461000	Weak transcription	Lung	lung
3	chr7:149448800-149461000	Weak transcription	Spleen	Spleen
4	chr7:149451000-149462400	Weak transcription	Pancreas	Pancrea
5	chr7:149451000-149462600	Weak transcription	Liver	Liver
6	chr7:149451200-149468400	Weak transcription	Right Atrium	heart
7	chr7:149451400-149461000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:149451400-149461400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:149452600-149463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:149453000-149461600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:149454600-149460800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:149458600-149461600	Weak transcription	Right Ventricle	heart
13	chr7:149459200-149461000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:149459200-149461800	Weak transcription	Gastric	stomach
15	chr7:149459200-149462400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:149459400-149462600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:149460000-149465000	Weak transcription	K562	blood
18	chr7:149460200-149460800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:149460400-149462000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:149460400-149463200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:149460400-149465400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr7:149460600-149463200	Weak transcription	Adipose Nuclei	Adipose
23	chr7:149460600-149468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:149460800-149461200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:149460800-149467600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:149460800-149467800	Strong transcription	Primary T cells from cord blood	blood
27	chr7:149461000-149461200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:149461000-149462400	Strong transcription	Spleen	Spleen
29	chr7:149461000-149462600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr7:149461000-149463200	Enhancers	Esophagus	oesophagus
31	chr7:149461000-149464400	ZNF genes & repeats	Fetal Stomach	stomach
32	chr7:149461000-149467000	Strong transcription	Lung	lung
33	chr7:149461000-149467200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:149461000-149467800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:149461200-149461600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:149461400-149461600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr7:149461400-149461600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:149461400-149461600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:149461400-149461800	Bivalent Enhancer	Fetal Heart	heart
40	chr7:149461400-149462800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
41	chr7:149461400-149463200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:149461400-149463200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr7:149461400-149464200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
44	chr7:149461600-149461800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:149461600-149461800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr7:149461600-149461800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:149461600-149461800	Bivalent Enhancer	Ovary	ovary
48	chr7:149461600-149462000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr7:149461600-149462000	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr7:149461600-149462200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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