Variant report

Variant	rs2378970
Chromosome Location	chr14:32331021-32331022
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10129419	0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs10130764	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135411	0.96[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136892	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10141141	0.84[ASN][1000 genomes]
rs10148852	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10150448	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10152018	0.94[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs10152063	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10348	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs11156713	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11156714	0.90[ASN][1000 genomes]
rs11156716	0.98[ASN][1000 genomes]
rs11156717	0.87[ASN][1000 genomes]
rs1129622	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1129623	0.98[ASN][1000 genomes]
rs11627083	0.89[ASN][1000 genomes]
rs12432404	0.90[ASN][1000 genomes]
rs12589862	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1572190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1889387	0.85[ASN][1000 genomes]
rs1959071	0.96[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1959072	0.98[ASN][1000 genomes]
rs1959073	0.88[ASN][1000 genomes]
rs1959074	0.87[ASN][1000 genomes]
rs1959075	0.88[ASN][1000 genomes]
rs28639476	0.90[ASN][1000 genomes]
rs2890046	0.92[ASN][1000 genomes]
rs34548885	0.85[ASN][1000 genomes]
rs35943743	0.98[ASN][1000 genomes]
rs3742923	0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3825742	0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs4474604	0.88[ASN][1000 genomes]
rs4981129	0.90[ASN][1000 genomes]
rs4981130	0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs4981132	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981134	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981135	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981917	0.95[ASN][1000 genomes]
rs4981921	0.86[ASN][1000 genomes]
rs4981922	0.86[ASN][1000 genomes]
rs56020946	0.93[ASN][1000 genomes]
rs56208157	0.93[ASN][1000 genomes]
rs6571470	0.90[ASN][1000 genomes]
rs7140475	0.99[ASN][1000 genomes]
rs7141300	0.92[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7148271	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7154334	0.81[AMR][1000 genomes]
rs7158089	0.89[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs7161280	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7161640	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8003195	0.80[ASN][1000 genomes]
rs8003582	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005663	0.92[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8013469	0.97[ASN][1000 genomes]
rs8015328	0.96[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015523	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8016004	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8020037	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8021918	0.96[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8022995	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8023131	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv901593	chr14:32282564-32350371	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32295000-32332800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:32313000-32334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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