Variant report

Variant	rs12063764
Chromosome Location	chr1:95240214-95240215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95236740..95239780-chr1:95240138..95243352,4	K562	blood:
2	chr1:95239555..95242500-chr1:95242602..95244324,2	MCF-7	breast:
3	chr1:95239553..95241995-chr1:95245033..95246772,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11165239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165257	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057287	1.00[EUR][1000 genomes]
rs12058606	1.00[EUR][1000 genomes]
rs12058766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059284	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12059919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060754	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12078728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081570	1.00[EUR][1000 genomes]
rs12083162	1.00[EUR][1000 genomes]
rs12085965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086647	1.00[EUR][1000 genomes]
rs12086825	1.00[EUR][1000 genomes]
rs12089732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091334	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095617	1.00[EUR][1000 genomes]
rs3916208	1.00[EUR][1000 genomes]
rs3931243	1.00[EUR][1000 genomes]
rs56004399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56075866	1.00[EUR][1000 genomes]
rs56088880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56252039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56989877	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58484675	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59906561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60642625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61371315	1.00[EUR][1000 genomes]
rs61634360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665321	1.00[EUR][1000 genomes]
rs72956408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72956425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72974480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101525	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101528	1.00[EUR][1000 genomes]
rs74101530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7540383	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95223800-95241600	Weak transcription	Aorta	Aorta
2	chr1:95237000-95242000	Enhancers	Pancreas	Pancrea
3	chr1:95237200-95240400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:95237200-95240800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:95238000-95240600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:95238000-95241000	Enhancers	Stomach Mucosa	stomach
7	chr1:95238400-95240600	Enhancers	NHLF	lung
8	chr1:95238400-95240800	Enhancers	Lung	lung
9	chr1:95238800-95240600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:95238800-95240800	Enhancers	NHDF-Ad	bronchial
11	chr1:95239000-95240400	Enhancers	Fetal Intestine Large	intestine
12	chr1:95239000-95240400	Enhancers	HepG2	liver
13	chr1:95239000-95240800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:95239200-95248600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:95239400-95249000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:95239800-95240400	Enhancers	Esophagus	oesophagus
17	chr1:95239800-95240800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:95239800-95242000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:95239800-95245400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:95240000-95240400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:95240000-95241800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:95240000-95241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:95240000-95241800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:95240000-95241800	Weak transcription	Fetal Intestine Small	intestine
25	chr1:95240000-95242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:95240000-95247000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:95240000-95249000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:95240200-95240400	Enhancers	Fetal Kidney	kidney
29	chr1:95240200-95242000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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