Variant report

Variant	rs62177800
Chromosome Location	chr2:205521802-205521803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17450407	0.90[EUR][1000 genomes]
rs56272258	0.86[EUR][1000 genomes]
rs62177765	0.95[EUR][1000 genomes]
rs62177802	0.86[EUR][1000 genomes]
rs62177805	0.86[EUR][1000 genomes]
rs62180284	0.86[EUR][1000 genomes]
rs73984259	0.95[EUR][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	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	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205507400-205530000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:205517200-205530000	Weak transcription	Ovary	ovary
3	chr2:205519000-205522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:205519400-205529400	Weak transcription	Fetal Heart	heart
5	chr2:205520000-205529200	Weak transcription	Fetal Lung	lung
6	chr2:205520200-205529200	Weak transcription	Esophagus	oesophagus
7	chr2:205520400-205522000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:205520400-205528600	Weak transcription	NHLF	lung
9	chr2:205520400-205528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:205520800-205527800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:205520800-205527800	Weak transcription	HSMM	muscle
12	chr2:205520800-205527800	Weak transcription	HSMMtube	muscle
13	chr2:205520800-205542800	Weak transcription	Psoas Muscle	Psoas
14	chr2:205521000-205546200	Weak transcription	Aorta	Aorta
15	chr2:205521400-205522200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:205521600-205522400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:205521800-205522000	Enhancers	Colon Smooth Muscle	Colon
18	chr2:205521800-205522000	Enhancers	NHEK	skin
19	chr2:205521800-205529000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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