Variant report

Variant	rs72970265
Chromosome Location	chr4:167342424-167342425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10010665	1.00[AMR][1000 genomes]
rs10019524	1.00[AMR][1000 genomes]
rs10213167	1.00[AMR][1000 genomes]
rs10213446	1.00[AMR][1000 genomes]
rs1492543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047576	1.00[AMR][1000 genomes]
rs17047595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17047610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57315171	1.00[AMR][1000 genomes]
rs72970261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970262	1.00[AMR][1000 genomes]
rs72970295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664317	1.00[AMR][1000 genomes]
rs7689203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034421	chr4:166961339-167893289	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv537339	chr4:166961339-167893289	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032009	chr4:167154813-167403235	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv880900	chr4:167155443-167368812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv880967	chr4:167185391-167366567	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv881405	chr4:167193885-167628013	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1023051	chr4:167304814-168211540	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv537340	chr4:167304814-168211540	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1028788	chr4:167315021-167403235	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167341200-167343200	Enhancers	Aorta	Aorta
2	chr4:167341600-167343400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:167341800-167343800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:167341800-167344400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:167341800-167346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:167342200-167345000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:167342200-167345200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:167342200-167345200	Enhancers	Osteobl	bone
9	chr4:167342200-167346000	Enhancers	NH-A	brain
10	chr4:167342400-167343400	Enhancers	HSMM	muscle
11	chr4:167342400-167343400	Enhancers	HSMMtube	muscle
12	chr4:167342400-167345200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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