Variant report

Variant	rs1247616
Chromosome Location	chr4:74557890-74557891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1247606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247612	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247613	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1269765	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745249	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs942055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv437396	chr4:74552157-74561560	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74550200-74563600	Weak transcription	HMEC	breast
2	chr4:74553400-74558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:74556400-74563800	Weak transcription	NHDF-Ad	bronchial
4	chr4:74556400-74563800	Weak transcription	Osteobl	bone
5	chr4:74557600-74558400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:74557800-74558200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:74557800-74558400	Enhancers	HUVEC	blood vessel
8	chr4:74557800-74558600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:74557800-74558600	Enhancers	NHEK	skin
10	chr4:74557800-74558800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:74557800-74558800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:74557800-74558800	Enhancers	A549	lung
13	chr4:74557800-74558800	Enhancers	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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