Variant report

Variant	rs12757567
Chromosome Location	chr1:192699042-192699043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10489516	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489518	0.84[AFR][1000 genomes]
rs12724227	0.83[EUR][1000 genomes]
rs12726547	0.83[EUR][1000 genomes]
rs12727381	0.83[EUR][1000 genomes]
rs12727538	0.83[EUR][1000 genomes]
rs12730514	0.83[EUR][1000 genomes]
rs12731540	0.83[EUR][1000 genomes]
rs12733584	0.90[EUR][1000 genomes]
rs12734103	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12743947	0.83[EUR][1000 genomes]
rs12744645	0.83[EUR][1000 genomes]
rs12744940	0.83[EUR][1000 genomes]
rs12747575	0.83[EUR][1000 genomes]
rs12748165	0.83[EUR][1000 genomes]
rs12749077	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12749254	0.83[EUR][1000 genomes]
rs12750259	0.83[EUR][1000 genomes]
rs12751300	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12751942	0.83[EUR][1000 genomes]
rs12752676	0.83[EUR][1000 genomes]
rs12754700	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754879	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834649	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16834654	0.83[EUR][1000 genomes]
rs16834657	0.83[EUR][1000 genomes]
rs16834665	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16834668	0.83[EUR][1000 genomes]
rs16834673	0.83[EUR][1000 genomes]
rs16834675	0.83[EUR][1000 genomes]
rs16834677	0.83[EUR][1000 genomes]
rs16834679	0.83[EUR][1000 genomes]
rs16834688	0.83[EUR][1000 genomes]
rs16834690	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16834693	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs16834698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834703	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834706	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583672	1.00[CEU][hapmap]
rs17585105	0.90[EUR][1000 genomes]
rs17585265	0.86[EUR][1000 genomes]
rs1933703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1933704	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2146609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296022	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs2296023	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs33945715	0.83[EUR][1000 genomes]
rs34097781	0.83[EUR][1000 genomes]
rs34100239	0.90[EUR][1000 genomes]
rs34113351	0.83[EUR][1000 genomes]
rs34192146	0.83[EUR][1000 genomes]
rs34208957	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34347367	0.83[EUR][1000 genomes]
rs34348864	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34349890	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34373724	0.83[EUR][1000 genomes]
rs34494529	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34495773	0.83[EUR][1000 genomes]
rs34539703	0.83[EUR][1000 genomes]
rs34624213	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34725057	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34823827	0.90[EUR][1000 genomes]
rs34889140	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34960843	0.83[EUR][1000 genomes]
rs34987447	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35103963	0.83[EUR][1000 genomes]
rs35164338	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35234624	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs35431149	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35491260	0.83[EUR][1000 genomes]
rs35511097	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35555343	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35556099	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35557412	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35679411	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35766898	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35918607	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36034041	0.83[EUR][1000 genomes]
rs36057899	0.90[EUR][1000 genomes]
rs36082277	0.83[EUR][1000 genomes]
rs36087525	0.83[EUR][1000 genomes]
rs36090855	0.83[EUR][1000 genomes]
rs36125019	0.83[EUR][1000 genomes]
rs4603110	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs4995860	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4995861	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55700255	0.86[AFR][1000 genomes]
rs56073640	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57015259	0.86[AFR][1000 genomes]
rs59228642	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61223354	0.86[AFR][1000 genomes]
rs6656146	0.83[EUR][1000 genomes]
rs6673110	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6681333	0.83[EUR][1000 genomes]
rs6691305	0.90[EUR][1000 genomes]
rs71639163	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71639164	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71639165	0.83[EUR][1000 genomes]
rs71639168	0.83[EUR][1000 genomes]
rs71639169	0.83[EUR][1000 genomes]
rs71639171	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71639172	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71639173	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs71639174	0.90[EUR][1000 genomes]
rs74130449	0.83[EUR][1000 genomes]
rs74130457	0.84[AFR][1000 genomes]
rs74130458	0.86[AFR][1000 genomes]
rs74130459	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130460	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130461	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130462	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130463	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130464	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74130467	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192697400-192701000	Enhancers	Fetal Lung	lung
2	chr1:192697800-192699400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:192698600-192699200	Enhancers	HSMMtube	muscle
4	chr1:192698600-192700000	Enhancers	Fetal Heart	heart
5	chr1:192698800-192699400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:192698800-192699400	Enhancers	Adipose Nuclei	Adipose
7	chr1:192698800-192699400	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:192698800-192699400	Enhancers	Brain Hippocampus Middle	brain
9	chr1:192699000-192699200	Active TSS	Aorta	Aorta
10	chr1:192699000-192704200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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