Variant report

Variant	rs4680493
Chromosome Location	chr3:158885676-158885677
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13314232	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs1962071	0.81[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes]
rs4355325	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4419423	0.87[ASW][hapmap];0.97[LWK][hapmap];0.94[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs4469016	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs55791334	0.93[AFR][1000 genomes]
rs59690805	0.95[AFR][1000 genomes]
rs6765003	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs6789328	1.00[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs73164387	0.93[AFR][1000 genomes]
rs9290034	0.91[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9859695	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv470971	chr3:158590928-159158217	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3426016	chr3:158676623-158979242	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv491927	chr3:158692653-158952780	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv998949	chr3:158774806-159394550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1012602	chr3:158800182-159031618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1010828	chr3:158802474-158894319	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158881800-158886600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:158881800-158886600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:158881800-158886600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:158881800-158886600	Weak transcription	HMEC	breast
5	chr3:158882000-158887400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:158882200-158887400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:158882200-158887400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:158882400-158887400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:158882600-158886600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:158882800-158887400	Weak transcription	A549	lung
11	chr3:158884600-158886600	Weak transcription	HUVEC	blood vessel
12	chr3:158884600-158887400	Weak transcription	NHLF	lung
13	chr3:158884600-158889800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:158884800-158887200	Weak transcription	Stomach Mucosa	stomach
15	chr3:158885200-158886000	Enhancers	Liver	Liver
16	chr3:158885200-158887400	Weak transcription	Osteobl	bone
17	chr3:158885600-158885800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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