Variant report

Variant	rs10807975
Chromosome Location	chr7:149583149-149583150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr7:149582537-149583313	HepG2	liver:	n/a	n/a
2	HNF4G	chr7:149582710-149583152	HepG2	liver:	n/a	chr7:149582914-149582922 chr7:149582875-149582887 chr7:149582875-149582887 chr7:149582870-149582892 chr7:149582887-149582899
3	HNF4A	chr7:149582757-149583184	HepG2	liver:	n/a	chr7:149583001-149583016 chr7:149582914-149582922 chr7:149582875-149582887 chr7:149582875-149582887 chr7:149582870-149582892 chr7:149582887-149582899
4	SPI1	chr7:149583049-149583522	HL-60	blood:	n/a	chr7:149583260-149583273
5	MAFF	chr7:149582646-149583216	HepG2	liver:	n/a	n/a
6	MAFK	chr7:149582657-149583251	HepG2	liver:	n/a	chr7:149582735-149582749 chr7:149582736-149582747 chr7:149582908-149582917 chr7:149582737-149582748 chr7:149582737-149582748 chr7:149582736-149582747 chr7:149582732-149582748
7	EP300	chr7:149582696-149583160	HepG2	liver:	n/a	chr7:149582850-149582866
8	MAFK	chr7:149582568-149583237	HepG2	liver:	n/a	chr7:149582735-149582749 chr7:149582736-149582747 chr7:149582908-149582917 chr7:149582737-149582748 chr7:149582737-149582748 chr7:149582736-149582747 chr7:149582732-149582748
9	ARID3A	chr7:149582723-149583399	HepG2	liver:	n/a	n/a
10	SP1	chr7:149582643-149583169	HepG2	liver:	n/a	n/a
11	HNF4A	chr7:149582738-149583176	HepG2	liver:	n/a	chr7:149583001-149583016 chr7:149582914-149582922 chr7:149582875-149582887 chr7:149582875-149582887 chr7:149582870-149582892 chr7:149582887-149582899

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:149580491..149582159-chr7:149582592..149584410,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273293	TF binding region
ENSG00000273011	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10240203	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10241201	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10245092	0.89[EUR][1000 genomes]
rs10246226	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10247524	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10270385	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs10807976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10952234	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1133480	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs11773140	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12540296	0.90[EUR][1000 genomes]
rs13243007	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs17756342	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs1859529	0.96[CEU][hapmap]
rs2074700	0.82[EUR][1000 genomes]
rs2074701	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2074702	0.83[EUR][1000 genomes]
rs2074703	0.86[EUR][1000 genomes]
rs2373465	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs3735330	0.83[EUR][1000 genomes]
rs3735331	0.83[EUR][1000 genomes]
rs3735332	0.83[EUR][1000 genomes]
rs3735333	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3735334	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs3857764	0.96[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs4281039	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4281040	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4281041	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4348397	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs4394310	0.84[EUR][1000 genomes]
rs4400299	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4401760	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4419731	0.84[EUR][1000 genomes]
rs4469371	0.84[EUR][1000 genomes]
rs4725316	0.97[EUR][1000 genomes]
rs4725833	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4725834	0.82[EUR][1000 genomes]
rs4725835	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4725836	0.95[EUR][1000 genomes]
rs4725838	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6464035	0.96[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs6946997	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6947011	0.92[EUR][1000 genomes]
rs6949468	0.86[EUR][1000 genomes]
rs6967083	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6976451	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6977798	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6980166	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs6980260	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6980277	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7785847	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7799585	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7805600	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7806830	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7806974	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9640266	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv831184	chr7:149424835-149600093	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv2758139	chr7:149441590-149956415	Strong transcription Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759571	chr7:149441590-149956415	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv889409	chr7:149458623-149585379	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1029471	chr7:149496177-149810381	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	nsv539193	chr7:149496177-149810381	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1033095	chr7:149508083-149781872	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv1029484	chr7:149539914-149599326	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	esv2753117	chr7:149546703-149806076	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	esv2757242	chr7:149546703-149906047	Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv889413	chr7:149547703-149610781	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv889414	chr7:149547703-149643233	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
17	nsv889415	chr7:149547703-149643233	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv889416	chr7:149547703-149656318	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
19	nsv889417	chr7:149547703-149658257	Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv889418	chr7:149547703-149658257	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
21	nsv889419	chr7:149547703-149671262	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
22	nsv889420	chr7:149547703-149700526	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
23	nsv889421	chr7:149547703-149741002	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
24	nsv889422	chr7:149547703-149776603	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
25	nsv889423	chr7:149547703-149838371	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
26	nsv889424	chr7:149547703-149865912	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
27	nsv8229	chr7:149549787-149882563	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
28	nsv465205	chr7:149551993-149583170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
29	nsv465207	chr7:149551993-149583170	Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
30	nsv465208	chr7:149551993-149583170	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
31	nsv608988	chr7:149551993-149583170	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
32	nsv465209	chr7:149551993-149585379	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
33	nsv465210	chr7:149551993-149585379	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
34	nsv608989	chr7:149551993-149585379	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
35	nsv889425	chr7:149551993-149643233	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
36	nsv889426	chr7:149551993-149658257	Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
37	nsv889427	chr7:149551993-149683508	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
38	nsv889428	chr7:149551993-149857558	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
39	nsv1022103	chr7:149552534-149681561	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
40	nsv1028178	chr7:149552534-149726806	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
41	nsv889429	chr7:149553819-149647469	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
42	nsv889430	chr7:149553819-149656318	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
43	nsv889431	chr7:149553819-149671262	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
44	nsv889432	chr7:149553819-149844639	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
45	nsv889433	chr7:149553819-149880262	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
46	nsv1035069	chr7:149559673-149695197	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
47	nsv1016446	chr7:149559673-149743092	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
48	nsv1017147	chr7:149559673-149748966	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
49	nsv1029171	chr7:149559673-149751211	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
50	nsv1015591	chr7:149561049-149726806	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10807975	ATP6V0E2	cis	multi-tissue	Pritchard
rs10807975	LOC401431	cis	multi-tissue	Pritchard
rs10807975	ATP6V0E2-AS1	cis	Nerve Tibial	GTEx
rs10807975	ATP6V0E2	cis	Nerve Tibial	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149571600-149586600	Weak transcription	Small Intestine	intestine
2	chr7:149572000-149584200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:149575400-149584000	Enhancers	Fetal Muscle Leg	muscle
4	chr7:149576200-149584000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:149576800-149583800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:149578200-149586200	Weak transcription	Thymus	Thymus
7	chr7:149578400-149585400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:149578800-149585600	Weak transcription	Lung	lung
9	chr7:149579200-149583800	Enhancers	HSMMtube	muscle
10	chr7:149579800-149583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:149579800-149583200	Enhancers	Adipose Nuclei	Adipose
12	chr7:149580200-149586000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:149580400-149585800	Weak transcription	Fetal Brain Male	brain
14	chr7:149580800-149585600	Weak transcription	Fetal Thymus	thymus
15	chr7:149580800-149586400	Weak transcription	Primary T cells from cord blood	blood
16	chr7:149581000-149583400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:149581000-149587200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:149581000-149588000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:149581200-149584200	Enhancers	Liver	Liver
20	chr7:149581200-149585000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr7:149581200-149587200	Weak transcription	Fetal Brain Female	brain
22	chr7:149581400-149587000	Weak transcription	Brain Anterior Caudate	brain
23	chr7:149581600-149583400	Enhancers	HSMM	muscle
24	chr7:149582000-149583400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:149582000-149584000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:149582200-149583200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:149582200-149583400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:149582200-149583400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:149582200-149583400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr7:149582200-149583600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:149582200-149583800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:149582400-149583200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:149582400-149583400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:149582600-149583400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:149582600-149583400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:149582600-149583800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:149582600-149583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:149582600-149584000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:149582800-149583600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:149582800-149583800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:149582800-149583800	Enhancers	Primary hematopoietic stem cells	blood
42	chr7:149582800-149584000	Enhancers	HepG2	liver
43	chr7:149582800-149584200	Weak transcription	Fetal Intestine Small	intestine
44	chr7:149582800-149584400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:149582800-149584600	Enhancers	Primary B cells from cord blood	blood
46	chr7:149582800-149585600	Weak transcription	Brain Substantia Nigra	brain
47	chr7:149582800-149585800	Enhancers	Primary B cells from peripheral blood	blood
48	chr7:149582800-149586400	Weak transcription	Right Atrium	heart
49	chr7:149582800-149587200	Weak transcription	Brain Angular Gyrus	brain
50	chr7:149583000-149583400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links