Variant report

Variant	rs62445829
Chromosome Location	chr7:12859231-12859232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12853166..12855784-chr7:12857906..12859818,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12112736	0.88[EUR][1000 genomes]
rs13222073	0.83[ASN][1000 genomes]
rs13222475	0.97[ASN][1000 genomes]
rs13225358	0.83[ASN][1000 genomes]
rs17680996	0.94[ASN][1000 genomes]
rs17681117	0.83[ASN][1000 genomes]
rs2215334	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587853	0.82[EUR][1000 genomes]
rs35464195	0.80[ASN][1000 genomes]
rs57183141	1.00[AMR][1000 genomes]
rs61620655	1.00[AMR][1000 genomes]
rs62445809	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445810	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445811	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445812	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445825	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445826	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445827	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445828	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445831	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445834	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445836	0.80[ASN][1000 genomes]
rs62445837	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445838	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62445851	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445853	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445854	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445855	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445856	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62445857	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62448165	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62448166	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62448167	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62448168	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62448170	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62448183	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62448187	1.00[AMR][1000 genomes]
rs62448190	1.00[AMR][1000 genomes]
rs62448191	1.00[AMR][1000 genomes]
rs62448193	1.00[AMR][1000 genomes]
rs6956351	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6960791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966108	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6966517	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs764903	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7780699	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7793712	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7796721	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	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
6	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv1027806	chr7:12842708-12875714	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv1016775	chr7:12845004-12865643	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12854800-12867200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:12857200-12859800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:12857400-12859800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:12857600-12859800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:12857600-12860800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:12858400-12862200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:12858800-12859400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:12858800-12861200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:12858800-12861600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:12858800-12861800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:12858800-12861800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:12858800-12861800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:12858800-12862000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:12859200-12861000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:12859200-12863000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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