Variant report

Variant	rs2157672
Chromosome Location	chr9:118438951-118438952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12000417	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56364993	0.92[EUR][1000 genomes]
rs58053524	0.87[EUR][1000 genomes]
rs59229212	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62575352	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62575356	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62575357	0.87[EUR][1000 genomes]
rs62577060	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7025537	0.87[EUR][1000 genomes]
rs7045256	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73517508	0.87[EUR][1000 genomes]
rs7866856	0.92[EUR][1000 genomes]
rs7869007	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs982463	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs982464	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615251	chr9:117975864-118514444	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv831698	chr9:118284259-118446456	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1047164	chr9:118286742-118456851	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 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	chr9:118435800-118439000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:118435800-118440400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:118436600-118439000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:118436600-118439000	Weak transcription	HSMM	muscle
5	chr9:118436600-118439200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:118436600-118440400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:118436600-118441400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:118436600-118442000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:118436600-118442600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:118438000-118439800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:118438000-118439800	ZNF genes & repeats	A549	lung
12	chr9:118438400-118439600	Weak transcription	NHDF-Ad	bronchial

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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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