Variant report

Variant	rs72611916
Chromosome Location	chr2:114072047-114072048
allele	C/T
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:2)

rs_ID	r²[population]
rs17043296	0.88[AMR][1000 genomes]
rs62158165	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114064600-114082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114066200-114072200	Weak transcription	Psoas Muscle	Psoas
3	chr2:114066400-114073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:114067600-114072200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:114068000-114072400	Weak transcription	HSMMtube	muscle
6	chr2:114068000-114072600	Weak transcription	NHDF-Ad	bronchial
7	chr2:114068000-114072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:114071400-114072200	Enhancers	Fetal Intestine Small	intestine
9	chr2:114071600-114072400	Enhancers	NHEK	skin
10	chr2:114071600-114072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:114071800-114072400	Weak transcription	Fetal Intestine Large	intestine
12	chr2:114071800-114072600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:114071800-114072800	Enhancers	Fetal Muscle Leg	muscle
14	chr2:114072000-114072800	Enhancers	A549	lung
15	chr2:114072000-114073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:114072000-114074200	Enhancers	HMEC	breast

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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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