Variant report

Variant	rs2372700
Chromosome Location	chr2:36893630-36893631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10192627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1468808	0.96[AFR][1000 genomes]
rs3944014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4670580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4670581	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563689	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv523146	chr2:36849220-36897909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised 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	23 gene(s)	inside rSNPs	diseases
7	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr2:36880000-36895000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36887400-36894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:36891400-36894800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:36891400-36894800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:36891400-36895000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:36891400-36897800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:36891400-36897800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:36891600-36897600	Weak transcription	Osteobl	bone
9	chr2:36891800-36894800	Weak transcription	HUVEC	blood vessel
10	chr2:36892000-36900200	Weak transcription	A549	lung
11	chr2:36892400-36898200	Weak transcription	NHDF-Ad	bronchial
12	chr2:36892800-36897800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:36892800-36898200	Weak transcription	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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