Variant report

Variant	rs2217853
Chromosome Location	chr4:174961218-174961219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10002337	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10004896	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10007379	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10028766	0.92[ASN][1000 genomes]
rs10520266	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11133026	0.93[EUR][1000 genomes]
rs11724216	0.93[EUR][1000 genomes]
rs13110863	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13128730	0.91[EUR][1000 genomes]
rs2332799	0.96[ASN][1000 genomes]
rs4235203	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4362799	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4524361	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4593104	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62336626	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62336628	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6815740	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7664899	0.81[AMR][1000 genomes];0.93[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	nsv830155	chr4:174943809-175136483	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016910	chr4:174952788-175349057	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537363	chr4:174952788-175349057	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174958600-174961800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:174958600-174962800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:174959200-174961600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:174959200-174962400	Weak transcription	Fetal Heart	heart
5	chr4:174959600-174962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:174960200-174968600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:174960400-174964000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:174961200-174964200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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