Variant report

Variant	rs722496
Chromosome Location	chr4:106515813-106515814
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10020712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10516519	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374530	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56009808	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59428412	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715706	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669965	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106509000-106540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:106513400-106519400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:106513800-106518800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:106514800-106517200	Weak transcription	Pancreas	Pancrea
5	chr4:106515000-106516000	Enhancers	A549	lung
6	chr4:106515000-106516400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:106515200-106516000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr4:106515200-106516000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr4:106515400-106516000	Enhancers	Fetal Kidney	kidney
10	chr4:106515400-106516000	Enhancers	Fetal Lung	lung
11	chr4:106515600-106516200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:106515600-106516200	Flanking Active TSS	GM12878-XiMat	blood
13	chr4:106515600-106519200	Weak transcription	Stomach Mucosa	stomach
14	chr4:106515600-106521000	Weak transcription	Fetal Heart	heart
15	chr4:106515800-106516000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:106515800-106516200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:106515800-106516400	Enhancers	Liver	Liver
18	chr4:106515800-106516600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:106515800-106517400	Weak transcription	Fetal Intestine Small	intestine

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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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