Variant report

Variant	rs4728375
Chromosome Location	chr7:80841451-80841452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12112311	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17154928	0.97[ASN][1000 genomes]
rs17154936	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17154941	0.90[ASN][1000 genomes]
rs17154948	0.94[EUR][1000 genomes]
rs2190296	0.97[ASN][1000 genomes]
rs327711	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73378502	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80838000-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:80838000-80841800	Enhancers	NHDF-Ad	bronchial
3	chr7:80838400-80841600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:80838400-80841600	Enhancers	A549	lung
5	chr7:80838400-80841600	Enhancers	HSMM	muscle
6	chr7:80839400-80841600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:80839600-80841600	Enhancers	NH-A	brain
8	chr7:80840600-80843200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:80840800-80841600	Enhancers	K562	blood
10	chr7:80840800-80841800	Enhancers	Fetal Muscle Leg	muscle
11	chr7:80840800-80843000	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:80841000-80841800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:80841000-80841800	Enhancers	HUVEC	blood vessel
14	chr7:80841000-80843000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:80841200-80841600	Enhancers	Colon Smooth Muscle	Colon

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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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