Variant report

Variant	rs343145
Chromosome Location	chr2:20600808-20600809
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2449623	0.96[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs343141	0.89[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs343146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343155	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343160	0.86[JPT][hapmap]
rs6738346	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
2	chr2:20596200-20601000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:20597600-20601400	Enhancers	Fetal Muscle Leg	muscle
4	chr2:20598000-20601800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:20598600-20601200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:20598600-20601600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:20598800-20601400	Enhancers	Fetal Lung	lung
8	chr2:20599400-20603400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:20599400-20603400	Weak transcription	HSMM	muscle
10	chr2:20599600-20601000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:20600000-20601600	Enhancers	HMEC	breast
12	chr2:20600200-20601200	Enhancers	Adipose Nuclei	Adipose
13	chr2:20600200-20601400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:20600200-20601800	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:20600200-20602000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:20600600-20601600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20600600-20602000	Enhancers	NHEK	skin
18	chr2:20600800-20603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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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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