Variant report

Variant	rs11207948
Chromosome Location	chr1:62720372-62720373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1050334	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889309	0.86[ASN][1000 genomes]
rs10889313	0.86[ASN][1000 genomes]
rs10889315	0.85[ASN][1000 genomes]
rs11207941	0.87[ASN][1000 genomes]
rs11207942	0.80[ASN][1000 genomes]
rs11207943	0.86[ASN][1000 genomes]
rs11207944	0.86[ASN][1000 genomes]
rs11207945	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207946	0.86[ASN][1000 genomes]
rs11207947	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12030846	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12089897	0.86[ASN][1000 genomes]
rs12096118	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12120789	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12138777	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12144282	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2067994	0.86[ASN][1000 genomes]
rs2666478	0.95[ASN][1000 genomes]
rs2774928	0.86[ASN][1000 genomes]
rs41289438	0.87[ASN][1000 genomes]
rs4322258	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55673263	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56318037	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59025845	0.86[EUR][1000 genomes]
rs61775734	0.87[ASN][1000 genomes]
rs61775736	0.87[ASN][1000 genomes]
rs61775737	0.87[ASN][1000 genomes]
rs6660963	0.86[ASN][1000 genomes]
rs6680953	0.87[ASN][1000 genomes]
rs6688986	0.87[ASN][1000 genomes]
rs6696307	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6696486	0.87[ASN][1000 genomes]
rs7553446	0.86[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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:62704000-62720600	Weak transcription	Right Atrium	heart
2	chr1:62707600-62732000	Weak transcription	Gastric	stomach
3	chr1:62707800-62727400	Weak transcription	Pancreas	Pancrea
4	chr1:62710800-62731800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:62711600-62730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:62711600-62737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:62712000-62727400	Weak transcription	Fetal Lung	lung
8	chr1:62712000-62731600	Weak transcription	Placenta	Placenta
9	chr1:62713400-62728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:62718800-62728800	Weak transcription	Adipose Nuclei	Adipose
11	chr1:62719000-62726400	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:62719200-62723800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:62719600-62721000	Weak transcription	Fetal Stomach	stomach
14	chr1:62719600-62727800	Weak transcription	HepG2	liver
15	chr1:62719800-62727200	Weak transcription	Fetal Kidney	kidney
16	chr1:62720000-62721000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:62720200-62721200	Weak transcription	Placenta Amnion	Placenta Amnion

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