Variant report

Variant	rs4849193
Chromosome Location	chr2:114046522-114046523
allele	C/T
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:2)

rs_ID	r²[population]
rs6730542	0.92[AFR][1000 genomes]
rs7579028	0.84[AFR][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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv961872	chr2:114041837-114061641	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2762785	chr2:114044712-114081784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114040600-114047000	Enhancers	Liver	Liver
2	chr2:114040600-114047800	Weak transcription	Gastric	stomach
3	chr2:114042600-114048600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:114043200-114048800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:114043400-114047800	Weak transcription	Lung	lung
6	chr2:114043600-114048600	Weak transcription	NHEK	skin
7	chr2:114043800-114048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:114044600-114049200	Enhancers	Fetal Intestine Small	intestine
9	chr2:114044800-114048600	Enhancers	Fetal Intestine Large	intestine
10	chr2:114045000-114046800	Enhancers	HMEC	breast
11	chr2:114045400-114047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:114045400-114047000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:114045400-114049200	Enhancers	Stomach Mucosa	stomach
14	chr2:114045600-114046800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:114046000-114046600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:114046000-114047000	Flanking Active TSS	HepG2	liver
17	chr2:114046200-114046600	Enhancers	Rectal Mucosa Donor 31	rectum

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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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