Variant report

Variant	rs56160202
Chromosome Location	chr12:46820604-46820605
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11183482	1.00[EUR][1000 genomes]
rs11183487	1.00[EUR][1000 genomes]
rs11830080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830086	1.00[AMR][1000 genomes]
rs11837634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299499	1.00[EUR][1000 genomes]
rs12317255	1.00[EUR][1000 genomes]
rs12320438	1.00[EUR][1000 genomes]
rs12321512	1.00[EUR][1000 genomes]
rs12321642	1.00[EUR][1000 genomes]
rs12322378	1.00[EUR][1000 genomes]
rs13377959	1.00[EUR][1000 genomes]
rs17096896	1.00[EUR][1000 genomes]
rs17096922	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes]
rs2085682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes]
rs34280632	1.00[EUR][1000 genomes]
rs35875247	1.00[EUR][1000 genomes]
rs36010856	1.00[EUR][1000 genomes]
rs55649919	1.00[AMR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56036156	1.00[EUR][1000 genomes]
rs56196954	1.00[EUR][1000 genomes]
rs56314009	1.00[EUR][1000 genomes]
rs58460251	1.00[EUR][1000 genomes]
rs58890669	1.00[EUR][1000 genomes]
rs59451063	1.00[AMR][1000 genomes]
rs59608605	1.00[EUR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60565802	1.00[EUR][1000 genomes]
rs60878594	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes]
rs7136748	1.00[AMR][1000 genomes]
rs73290315	1.00[EUR][1000 genomes]
rs74081912	1.00[AMR][1000 genomes]
rs74082033	1.00[AMR][1000 genomes]
rs74082237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082254	1.00[EUR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes]
rs74085442	1.00[AMR][1000 genomes]
rs7488027	1.00[EUR][1000 genomes]
rs7954314	1.00[EUR][1000 genomes]
rs7965618	1.00[EUR][1000 genomes]
rs7967889	1.00[EUR][1000 genomes]
rs7975472	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats 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	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46809200-46820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:46810000-46823600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:46813000-46820800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:46819800-46821600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:46820000-46830600	Weak transcription	Ovary	ovary
6	chr12:46820200-46821000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr12:46820200-46824000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:46820400-46821000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:46820400-46825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:46820600-46821000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
11	chr12:46820600-46821000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:46820600-46821600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr12:46820600-46821600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr12:46820600-46821800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr12:46820600-46821800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr12:46820600-46822200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:46820600-46822400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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