Variant report

Variant	rs7712974
Chromosome Location	chr5:118943108-118943109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118804092..118805803-chr5:118943072..118945052,2	K562	blood:

Variant related genes	Relation type
ENSG00000239084	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10051870	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10059784	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10069875	1.00[TSI][hapmap]
rs10155585	0.97[ASN][1000 genomes]
rs10478426	0.85[GIH][hapmap];1.00[TSI][hapmap]
rs12653056	0.85[GIH][hapmap];1.00[TSI][hapmap]
rs12656474	0.83[GIH][hapmap]
rs12658566	0.92[GIH][hapmap];1.00[TSI][hapmap]
rs2115237	0.82[JPT][hapmap]
rs2162856	0.82[JPT][hapmap]
rs2561513	0.82[JPT][hapmap]
rs2561517	0.81[JPT][hapmap]
rs328651	0.91[ASN][1000 genomes]
rs328667	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs328694	0.82[JPT][hapmap]
rs328698	0.82[JPT][hapmap]
rs328701	0.82[JPT][hapmap]
rs328704	0.82[JPT][hapmap]
rs328708	0.82[JPT][hapmap]
rs374587	0.92[ASN][1000 genomes]
rs3756512	0.92[GIH][hapmap];1.00[TSI][hapmap]
rs3797363	0.85[GIH][hapmap];1.00[TSI][hapmap]
rs60093682	0.95[ASN][1000 genomes]
rs7736644	0.91[ASN][1000 genomes]
rs919306	0.82[JPT][hapmap]
rs921492	0.80[JPT][hapmap]
rs988464	0.82[JPT][hapmap]

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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv980944	chr5:118933077-118953774	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118942000-118945600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr5:118942400-118947000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:118943000-118943200	Enhancers	HUES6 Cell Line	embryonic stem cell

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