Variant report

Variant	rs6696831
Chromosome Location	chr1:193308003-193308004
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158488	0.87[AFR][1000 genomes]
rs1416978	1.00[AFR][1000 genomes]
rs2000033	1.00[AFR][1000 genomes]
rs2000034	1.00[AFR][1000 genomes]
rs28877141	0.87[AFR][1000 genomes]
rs6666665	1.00[AFR][1000 genomes]
rs6681616	1.00[AFR][1000 genomes]
rs6684226	1.00[AFR][1000 genomes]
rs7555784	0.80[AFR][1000 genomes]
rs9804124	0.96[AFR][1000 genomes]
rs9970143	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193305800-193317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193306600-193308200	Enhancers	NHDF-Ad	bronchial
3	chr1:193306800-193308200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:193306800-193309000	Enhancers	Osteobl	bone
5	chr1:193307000-193308200	Enhancers	NHLF	lung
6	chr1:193307200-193308400	Weak transcription	Fetal Intestine Large	intestine
7	chr1:193307400-193308400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:193307400-193308400	Weak transcription	HSMMtube	muscle
9	chr1:193307600-193310800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:193308000-193308200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:193308000-193310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:193308000-193310400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:193308000-193317400	Weak transcription	HSMM	muscle

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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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