Variant report

Variant	rs56404909
Chromosome Location	chr1:103731212-103731213
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2091507	1.00[ASN][1000 genomes]
rs2376356	0.87[ASN][1000 genomes]
rs2889353	0.87[ASN][1000 genomes]
rs61815064	0.87[ASN][1000 genomes]
rs72688841	0.80[EUR][1000 genomes]
rs72688855	0.82[EUR][1000 genomes]
rs72690648	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[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	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv432554	chr1:103673437-104128773	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv870954	chr1:103730700-103940483	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103730600-103731800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:103730600-103732400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:103730600-103732600	Enhancers	HSMM	muscle
4	chr1:103730600-103733200	Enhancers	HSMMtube	muscle
5	chr1:103730800-103732400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:103730800-103732400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:103731000-103731400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:103731000-103731600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:103731000-103731600	Flanking Active TSS	NH-A	brain
10	chr1:103731000-103731800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:103731000-103732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:103731200-103731400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:103731200-103731400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:103731200-103731600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:103731200-103731600	Flanking Active TSS	Osteobl	bone
16	chr1:103731200-103731800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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

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