Variant report

Variant	rs71639173
Chromosome Location	chr1:192696035-192696036
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10489516	0.87[EUR][1000 genomes]
rs10489518	0.85[AFR][1000 genomes]
rs12724227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726547	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727381	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727538	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729923	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12730514	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12731540	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12734103	0.82[EUR][1000 genomes]
rs12743947	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744645	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744940	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747575	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748165	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749077	0.82[EUR][1000 genomes]
rs12749254	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751300	0.81[AFR][1000 genomes]
rs12751942	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12752676	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754700	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12754879	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12755754	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757567	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16834649	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16834654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834657	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834665	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs16834668	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16834675	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834677	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834679	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834688	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834693	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834698	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16834703	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16834706	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17585105	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17585265	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933704	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146609	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs33945715	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34097781	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34113351	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34192146	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34208957	0.82[EUR][1000 genomes]
rs34347367	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34348864	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34349890	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34373724	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494529	0.82[EUR][1000 genomes]
rs34495773	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34539703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624213	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34725057	0.82[EUR][1000 genomes]
rs34823827	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34889140	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34960843	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987447	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35103963	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35164338	0.82[EUR][1000 genomes]
rs35234624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35431149	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35491260	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511097	0.82[EUR][1000 genomes]
rs35555343	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35556099	0.82[EUR][1000 genomes]
rs35557412	0.82[EUR][1000 genomes]
rs35679411	0.82[EUR][1000 genomes]
rs35766898	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35918607	0.82[EUR][1000 genomes]
rs36034041	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36057899	1.00[EUR][1000 genomes]
rs36082277	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36087525	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36090855	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36125019	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4995860	0.82[EUR][1000 genomes]
rs4995861	0.82[EUR][1000 genomes]
rs55700255	0.87[AFR][1000 genomes]
rs56073640	0.90[EUR][1000 genomes]
rs57015259	0.87[AFR][1000 genomes]
rs59228642	0.90[EUR][1000 genomes]
rs61223354	0.87[AFR][1000 genomes]
rs6656146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6673110	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6681333	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691305	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639163	0.82[EUR][1000 genomes]
rs71639164	0.82[EUR][1000 genomes]
rs71639165	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639168	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639169	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639171	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71639172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130449	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130457	0.89[AFR][1000 genomes]
rs74130458	0.87[AFR][1000 genomes]
rs74130459	0.90[EUR][1000 genomes]
rs74130460	0.90[EUR][1000 genomes]
rs74130461	0.90[EUR][1000 genomes]
rs74130462	0.90[EUR][1000 genomes]
rs74130463	0.90[EUR][1000 genomes]
rs74130464	0.90[EUR][1000 genomes]
rs74130467	0.90[EUR][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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192694200-192697400	Weak transcription	Fetal Lung	lung
2	chr1:192694400-192698800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:192694600-192699000	Weak transcription	Aorta	Aorta
4	chr1:192695200-192697000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:192695800-192696200	Enhancers	Fetal Intestine Large	intestine
6	chr1:192696000-192696200	Enhancers	NHDF-Ad	bronchial
7	chr1:192696000-192696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192696000-192696400	Flanking Active TSS	NHEK	skin
9	chr1:192696000-192696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:192696000-192696800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:192696000-192696800	Enhancers	HMEC	breast

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