Variant report

Variant	rs11495996
Chromosome Location	chr7:12947782-12947783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12947440..12949017-chr7:12950414..12952410,2	K562	blood:
2	chr7:12946651..12949444-chr7:12952675..12955185,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10950417	1.00[ASN][1000 genomes]
rs10950418	1.00[ASN][1000 genomes]
rs10950419	1.00[ASN][1000 genomes]
rs12155420	1.00[ASN][1000 genomes]
rs12216561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531011	1.00[ASN][1000 genomes]
rs12531228	1.00[ASN][1000 genomes]
rs12532172	1.00[ASN][1000 genomes]
rs12533247	1.00[ASN][1000 genomes]
rs12533314	1.00[ASN][1000 genomes]
rs12533912	1.00[ASN][1000 genomes]
rs12534712	1.00[ASN][1000 genomes]
rs12535230	1.00[ASN][1000 genomes]
rs12535869	1.00[ASN][1000 genomes]
rs12536932	1.00[ASN][1000 genomes]
rs12538097	1.00[ASN][1000 genomes]
rs12538194	1.00[ASN][1000 genomes]
rs12538792	1.00[ASN][1000 genomes]
rs12539313	1.00[ASN][1000 genomes]
rs12539387	1.00[ASN][1000 genomes]
rs12539416	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540042	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699417	1.00[ASN][1000 genomes]
rs12699419	1.00[ASN][1000 genomes]
rs12699426	1.00[ASN][1000 genomes]
rs12699432	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699433	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224587	1.00[ASN][1000 genomes]
rs13225356	1.00[ASN][1000 genomes]
rs13227946	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228110	1.00[ASN][1000 genomes]
rs13228635	1.00[ASN][1000 genomes]
rs13232299	1.00[ASN][1000 genomes]
rs13233019	1.00[ASN][1000 genomes]
rs13233170	1.00[ASN][1000 genomes]
rs13233911	1.00[ASN][1000 genomes]
rs13235201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236001	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236020	1.00[ASN][1000 genomes]
rs13238922	1.00[ASN][1000 genomes]
rs13244444	1.00[ASN][1000 genomes]
rs34057597	1.00[ASN][1000 genomes]
rs34107937	1.00[ASN][1000 genomes]
rs34338066	1.00[ASN][1000 genomes]
rs34488685	1.00[ASN][1000 genomes]
rs34529424	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34591294	1.00[ASN][1000 genomes]
rs34755449	1.00[ASN][1000 genomes]
rs34809518	1.00[ASN][1000 genomes]
rs34904008	1.00[ASN][1000 genomes]
rs34928291	1.00[ASN][1000 genomes]
rs34971219	1.00[ASN][1000 genomes]
rs35003906	1.00[ASN][1000 genomes]
rs35181098	1.00[ASN][1000 genomes]
rs35193720	1.00[ASN][1000 genomes]
rs35616205	1.00[ASN][1000 genomes]
rs35769393	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35859074	1.00[ASN][1000 genomes]
rs35867430	1.00[ASN][1000 genomes]
rs35917995	1.00[ASN][1000 genomes]
rs35942853	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35966640	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55864529	1.00[ASN][1000 genomes]
rs55943442	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62450583	1.00[ASN][1000 genomes]
rs6954306	1.00[ASN][1000 genomes]
rs71536902	1.00[ASN][1000 genomes]
rs71538805	1.00[ASN][1000 genomes]
rs71538808	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9647958	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv464382	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv606237	chr7:12907178-12972685	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464384	chr7:12907178-13077065	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv606238	chr7:12907178-13077065	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv2763624	chr7:12917029-12951820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1026908	chr7:12944128-12959702	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12941800-12950800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:12942000-12948800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:12947600-12949000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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