Variant report

Variant	rs71639164
Chromosome Location	chr1:192669642-192669643
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10489516	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12724227	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12726547	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12727381	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12727538	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12729745	0.81[AFR][1000 genomes]
rs12730514	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12731540	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12733584	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12734103	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12743947	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12744645	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12744940	0.89[EUR][1000 genomes]
rs12747575	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12748165	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12749077	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12749254	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12750259	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12751300	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12751942	0.89[EUR][1000 genomes]
rs12752676	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12754700	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12754879	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12755754	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12757567	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16834613	0.82[ASN][1000 genomes]
rs16834649	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16834654	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834657	0.89[EUR][1000 genomes]
rs16834665	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834668	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834673	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834675	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834677	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834679	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834688	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16834690	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16834693	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16834698	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16834703	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16834706	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17585105	0.82[EUR][1000 genomes]
rs1933703	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1933704	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2146609	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33945715	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34097781	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34100239	0.82[EUR][1000 genomes]
rs34113351	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34192146	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34208957	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34347367	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34348864	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34349890	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34373724	0.89[EUR][1000 genomes]
rs34494529	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34495773	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34539703	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34624213	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34725057	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34823827	0.82[EUR][1000 genomes]
rs34889140	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34960843	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34987447	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35103963	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35164338	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35234624	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35431149	0.82[EUR][1000 genomes]
rs35491260	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs35511097	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35555343	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35556099	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35557412	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35679411	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35766898	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35918607	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36034041	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs36057899	0.82[EUR][1000 genomes]
rs36082277	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs36087525	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs36090855	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs36125019	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4995860	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4995861	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56073640	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59228642	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6656146	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6673110	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6681333	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6691305	0.82[EUR][1000 genomes]
rs71639163	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71639165	0.89[EUR][1000 genomes]
rs71639168	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs71639169	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs71639171	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71639172	0.82[EUR][1000 genomes]
rs71639173	0.82[EUR][1000 genomes]
rs71639174	0.82[EUR][1000 genomes]
rs74130418	0.82[ASN][1000 genomes]
rs74130421	0.82[ASN][1000 genomes]
rs74130422	0.82[ASN][1000 genomes]
rs74130449	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs74130459	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74130460	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74130461	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74130462	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74130463	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74130464	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74130467	0.93[EUR][1000 genomes];0.95[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192667600-192673000	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:192668400-192670800	Weak transcription	Placenta	Placenta
3	chr1:192669000-192669800	Enhancers	NH-A	brain
4	chr1:192669000-192671400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:192669000-192672000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:192669000-192672000	Enhancers	Hela-S3	cervix
7	chr1:192669000-192673200	Enhancers	NHLF	lung
8	chr1:192669200-192672400	Enhancers	Fetal Intestine Large	intestine
9	chr1:192669200-192672400	Enhancers	Osteobl	bone
10	chr1:192669200-192672800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:192669400-192670200	Flanking Active TSS	HepG2	liver
12	chr1:192669400-192670600	Enhancers	HSMM	muscle
13	chr1:192669400-192671800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:192669400-192671800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:192669400-192671800	Enhancers	NHDF-Ad	bronchial
16	chr1:192669400-192672200	Enhancers	HUVEC	blood vessel
17	chr1:192669600-192670000	Enhancers	NHEK	skin
18	chr1:192669600-192670200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:192669600-192670400	Flanking Active TSS	A549	lung
20	chr1:192669600-192670600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:192669600-192671200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:192669600-192671400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:192669600-192671400	Enhancers	Fetal Heart	heart
24	chr1:192669600-192671400	Enhancers	Fetal Intestine Small	intestine
25	chr1:192669600-192671600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:192669600-192671600	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:192669600-192671600	Enhancers	Stomach Mucosa	stomach
28	chr1:192669600-192671800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:192669600-192671800	Enhancers	HSMMtube	muscle
30	chr1:192669600-192672000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:192669600-192672200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:192669600-192673200	Enhancers	HMEC	breast
33	chr1:192669600-192674200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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