Variant report

Variant	rs4246236
Chromosome Location	chr12:26041703-26041704
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10771245	0.83[AMR][1000 genomes]
rs10771247	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167618	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1167619	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167636	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1177524	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1183807	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12824437	0.91[CHD][hapmap]
rs12828333	0.97[ASN][1000 genomes]
rs12829418	0.95[ASN][1000 genomes]
rs1488826	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs1488827	0.82[JPT][hapmap];0.81[LWK][hapmap];0.83[AMR][1000 genomes]
rs1797965	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2634170	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2643928	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28609105	0.95[ASN][1000 genomes]
rs4246237	0.85[AMR][1000 genomes]
rs706539	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7134761	0.87[CHB][hapmap];0.88[JPT][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7298011	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs7954454	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829823	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829824	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs829825	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829826	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829827	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829832	0.96[ASN][1000 genomes]
rs844202	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs853546	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 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	chr12:26037200-26042400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:26038000-26042400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:26038200-26042600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:26038400-26043000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:26038800-26042000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:26039000-26043600	Weak transcription	HMEC	breast
7	chr12:26039200-26043600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:26039200-26044400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:26040200-26042000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr12:26040600-26041800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:26040600-26042200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:26040600-26042200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:26040600-26042400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:26040800-26042200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:26040800-26042600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:26041000-26042000	Enhancers	Fetal Brain Female	brain
17	chr12:26041200-26041800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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