Variant report

Variant	rs73930966
Chromosome Location	chr2:38997580-38997581
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs59737185	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61388335	1.00[AMR][1000 genomes]
rs73930367	1.00[AMR][1000 genomes]
rs73930825	1.00[AMR][1000 genomes]
rs73930826	1.00[AMR][1000 genomes]
rs73930827	1.00[AMR][1000 genomes]
rs73930831	1.00[AMR][1000 genomes]
rs73930943	1.00[AMR][1000 genomes]
rs73930945	1.00[AMR][1000 genomes]
rs73930952	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930956	0.92[AFR][1000 genomes]
rs73930960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930965	0.92[AFR][1000 genomes];1.00[AMR][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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers 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	141 gene(s)	inside rSNPs	diseases
3	esv1798055	chr2:38955865-39039504	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1014616	chr2:38985472-39022893	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38979200-39005000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:38993400-38998800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:38993600-38999000	Weak transcription	Osteobl	bone
4	chr2:38994200-38998200	Enhancers	Fetal Heart	heart
5	chr2:38994600-38998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:38994600-39004600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:38995200-38998800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:38995400-38998800	Weak transcription	HepG2	liver
9	chr2:38995600-38999000	Weak transcription	Liver	Liver
10	chr2:38996400-38999000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:38997000-38998800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:38997200-38998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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