Variant report

Variant	rs847925
Chromosome Location	chr7:12528408-12528409
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12520796..12522779-chr7:12527850..12529893,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1100131	0.87[ASN][1000 genomes]
rs1100132	0.87[ASN][1000 genomes]
rs1100139	0.92[ASN][1000 genomes]
rs1100140	0.92[ASN][1000 genomes]
rs1100141	0.92[ASN][1000 genomes]
rs1100142	0.92[ASN][1000 genomes]
rs1100144	0.83[EUR][1000 genomes]
rs1440023	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs1659967	0.87[ASN][1000 genomes]
rs1659979	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17166055	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1899030	0.92[EUR][1000 genomes]
rs4721111	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6977228	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs702473	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs847904	0.87[ASN][1000 genomes]
rs847906	0.87[ASN][1000 genomes]
rs847911	0.85[ASN][1000 genomes]
rs847912	0.85[ASN][1000 genomes]
rs847913	0.87[ASN][1000 genomes]
rs847921	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs847927	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs847928	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847935	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847939	0.89[EUR][1000 genomes]
rs847946	0.89[EUR][1000 genomes]
rs847948	0.94[EUR][1000 genomes]
rs847960	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847962	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847967	0.92[ASN][1000 genomes]
rs847969	0.92[ASN][1000 genomes]
rs847970	0.92[ASN][1000 genomes]
rs847971	0.92[ASN][1000 genomes]
rs847972	0.92[ASN][1000 genomes]
rs847974	0.90[ASN][1000 genomes]
rs847975	0.92[ASN][1000 genomes]
rs847976	0.92[ASN][1000 genomes]
rs847978	0.92[ASN][1000 genomes]
rs847981	0.92[ASN][1000 genomes]
rs847984	0.90[ASN][1000 genomes]
rs847985	0.90[ASN][1000 genomes]
rs847986	0.82[ASN][1000 genomes]
rs847987	0.82[ASN][1000 genomes]
rs847988	0.85[ASN][1000 genomes]
rs847990	0.89[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs847991	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs847992	0.89[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs847993	0.87[ASN][1000 genomes]
rs847994	0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs847996	0.89[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs847997	0.88[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs847998	0.82[ASN][1000 genomes]
rs848000	0.82[ASN][1000 genomes]
rs848005	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs848010	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs848014	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs848017	0.89[CHB][hapmap]
rs848019	0.86[JPT][hapmap]
rs848024	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs848030	0.90[ASN][1000 genomes]
rs864039	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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	58 gene(s)	inside rSNPs	diseases
4	nsv464373	chr7:12406826-12536336	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606224	chr7:12406826-12536336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2757212	chr7:12505613-12596535	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2759511	chr7:12505613-12596535	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1017055	chr7:12509227-12553217	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv464377	chr7:12512802-12564128	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv606228	chr7:12512802-12564128	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv8048	chr7:12514460-12564736	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3692921	chr7:12515906-12564128	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv464378	chr7:12516170-12562500	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv606229	chr7:12516170-12562500	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv519965	chr7:12516170-12564128	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv470055	chr7:12516170-12564128	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv606230	chr7:12516170-12564128	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv818482	chr7:12516170-12564128	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1028361	chr7:12517477-12548420	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1027185	chr7:12517477-12549015	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1022047	chr7:12517477-12552147	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv1027708	chr7:12517477-12558257	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	esv2761074	chr7:12517477-12566200	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	nsv887640	chr7:12519212-12543794	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12528200-12529400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12528400-12528800	Enhancers	Fetal Brain Male	brain
3	chr7:12528400-12530800	Enhancers	HUES48 Cell Line	embryonic stem cell

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