Variant report

Variant	rs55667264
Chromosome Location	chr2:40563975-40563976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13406526	0.95[EUR][1000 genomes]
rs13406541	0.95[EUR][1000 genomes]
rs13417257	0.95[EUR][1000 genomes]
rs2192766	0.95[EUR][1000 genomes]
rs2192767	0.95[EUR][1000 genomes]
rs2216005	0.93[EUR][1000 genomes]
rs28463628	0.95[EUR][1000 genomes]
rs3922282	0.95[EUR][1000 genomes]
rs4140917	1.00[ASN][1000 genomes]
rs41428649	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757060	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40549400-40565200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
4	chr2:40557000-40568200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:40560000-40568000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:40560000-40568200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:40560000-40571400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:40560200-40567800	Weak transcription	HSMM	muscle
9	chr2:40560200-40568000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:40560200-40568200	Weak transcription	Osteobl	bone
11	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:40561200-40572800	Weak transcription	Left Ventricle	heart
13	chr2:40561600-40565000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:40562600-40564600	Enhancers	Fetal Heart	heart
15	chr2:40563400-40565200	Weak transcription	Right Ventricle	heart
16	chr2:40563800-40568200	Weak transcription	NHDF-Ad	bronchial

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

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