Variant report

Variant	rs35780638
Chromosome Location	chr2:40542622-40542623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12989125	1.00[AMR][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 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	chr2:40532000-40544800	Weak transcription	HSMM	muscle
2	chr2:40532000-40551800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:40533800-40543800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:40534000-40543000	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:40538000-40552000	Weak transcription	Left Ventricle	heart
6	chr2:40540000-40544000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:40541200-40543200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr2:40541400-40543600	ZNF genes & repeats	Dnd41	blood
9	chr2:40541800-40543200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:40542200-40546400	Enhancers	Hela-S3	cervix
11	chr2:40542400-40545400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:40542400-40549600	Enhancers	Fetal Heart	heart
13	chr2:40542400-40559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:40542600-40542800	Enhancers	Fetal Stomach	stomach
15	chr2:40542600-40545200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:40542600-40545400	Enhancers	NHDF-Ad	bronchial
17	chr2:40542600-40545600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:40542600-40545800	Enhancers	Osteobl	bone

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

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