Variant report

Variant	rs6130034
Chromosome Location	chr20:40728440-40728441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs746413	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs746414	0.84[ASN][1000 genomes]
rs909775	1.00[ASN][1000 genomes]
rs909776	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40714600-40730000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr20:40715800-40757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:40722800-40747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr20:40723000-40728600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr20:40723200-40741400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:40725200-40730800	Enhancers	Fetal Intestine Small	intestine
7	chr20:40725200-40731200	Enhancers	Fetal Intestine Large	intestine
8	chr20:40727000-40729600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:40727800-40728600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr20:40728400-40731400	Enhancers	Pancreas	Pancrea

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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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