Variant report

Variant	rs55642176
Chromosome Location	chr2:205659959-205659960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10180010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10195467	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10200870	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10206878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410955	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17450826	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55845025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56263726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62177846	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62177851	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875726	chr2:205588773-205700834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875727	chr2:205626483-205715245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv441801	chr2:205658020-205683746	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205654000-205673600	Weak transcription	Pancreas	Pancrea
2	chr2:205656800-205660000	Weak transcription	HSMM	muscle
3	chr2:205658000-205660000	Weak transcription	Psoas Muscle	Psoas
4	chr2:205659000-205660200	Enhancers	Ovary	ovary
5	chr2:205659200-205660000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:205659400-205660000	Weak transcription	Aorta	Aorta
7	chr2:205659400-205660800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:205659400-205663000	Weak transcription	Esophagus	oesophagus
9	chr2:205659600-205660200	Enhancers	Colon Smooth Muscle	Colon
10	chr2:205659600-205660400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:205659600-205660400	Enhancers	Osteobl	bone
12	chr2:205659600-205660800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:205659800-205660000	Flanking Active TSS	HUVEC	blood vessel
14	chr2:205659800-205660200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:205659800-205660200	Enhancers	NH-A	brain
16	chr2:205659800-205660400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:205659800-205660400	Enhancers	NHDF-Ad	bronchial
18	chr2:205659800-205660400	Enhancers	NHEK	skin
19	chr2:205659800-205660800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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