Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:128311065..128312727-chr7:128337751..128339462,2	K562	blood:
2	chr7:128332579..128336216-chr7:128338226..128341696,3	K562	blood:
3	chr7:128049553..128051541-chr7:128337995..128340649,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10954209	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10954210	0.95[EUR][1000 genomes]
rs11763357	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12532347	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12534956	0.91[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2003954	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2013189	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2060718	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56403867	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs57185253	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58709686	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58781928	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60117311	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481882	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481884	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481903	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481943	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483312	0.81[AMR][1000 genomes]
rs6965563	0.84[EUR][1000 genomes]
rs6971091	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73723614	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10954208	RP11-274B21.2	cis	Thyroid	GTEx
rs10954208	RP11-274B21.4	cis	lung	GTEx
rs10954208	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs10954208	CICP14	cis	Thyroid	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128338000-128339600	Weak transcription	Pancreas	Pancrea
2	chr7:128338000-128341000	Weak transcription	HMEC	breast
3	chr7:128338000-128346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:128338400-128339400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:128338400-128339600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:128338600-128339400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:128338600-128339400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:128338600-128339600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:128338600-128339600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:128338600-128349000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:128338800-128339600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:128338800-128339800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:128339200-128339600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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