Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11721387	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726410	0.82[ASN][1000 genomes]
rs11726443	0.82[ASN][1000 genomes]
rs11726548	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727329	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11731657	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125082	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13130600	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2412761	0.82[ASN][1000 genomes]
rs34308849	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34840470	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34937594	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35318869	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4413466	0.82[ASN][1000 genomes]
rs4443350	0.82[ASN][1000 genomes]
rs56143151	0.82[ASN][1000 genomes]
rs62308099	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308100	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62308107	0.91[ASN][1000 genomes]
rs62308153	0.82[ASN][1000 genomes]
rs6839166	0.82[ASN][1000 genomes]
rs7684642	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7685053	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9760540	0.82[ASN][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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57709800-57720000	Weak transcription	Right Atrium	heart
2	chr4:57710000-57711400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:57710000-57712200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:57710000-57713200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:57710000-57713200	Weak transcription	Adipose Nuclei	Adipose
6	chr4:57710800-57711400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:57710800-57711400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:57710800-57711600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:57710800-57711600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:57711000-57711400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr4:57711000-57711400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr4:57711000-57711400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:57711000-57711400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr4:57711000-57711800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:57711000-57711800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr4:57711000-57711800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr4:57711200-57712400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr4:57711200-57712400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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