Variant report

Variant	rs4493932
Chromosome Location	chr8:49194350-49194351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10957003	0.83[ASN][1000 genomes]
rs10957025	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11775133	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11777512	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11779663	0.84[ASN][1000 genomes]
rs11783152	0.82[ASN][1000 genomes]
rs11783466	0.84[ASN][1000 genomes]
rs12155524	0.82[ASN][1000 genomes]
rs12550843	0.83[ASN][1000 genomes]
rs12679335	0.82[ASN][1000 genomes]
rs13258419	1.00[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13280326	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34664131	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35955912	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3935535	0.83[ASN][1000 genomes]
rs4077922	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4286973	0.83[ASN][1000 genomes]
rs4291295	0.83[ASN][1000 genomes]
rs4357320	0.82[ASN][1000 genomes]
rs4873081	0.83[ASN][1000 genomes]
rs4873272	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7008284	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7464639	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7817899	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1808901	chr8:49173411-49201882	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49186800-49199400	Weak transcription	Right Atrium	heart
3	chr8:49187200-49198000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:49187800-49194400	Weak transcription	Fetal Stomach	stomach
5	chr8:49189200-49194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:49190800-49197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:49191000-49195200	Enhancers	NHDF-Ad	bronchial
8	chr8:49191200-49197200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:49192000-49194800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:49192000-49194800	Enhancers	NHEK	skin
11	chr8:49192000-49195000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:49192000-49195200	Enhancers	HMEC	breast
13	chr8:49192000-49195200	Enhancers	HUVEC	blood vessel
14	chr8:49192200-49194400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:49192400-49197000	Enhancers	NHLF	lung
16	chr8:49193200-49194400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:49193200-49196400	Weak transcription	Osteobl	bone
18	chr8:49193400-49194800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:49193400-49196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:49194000-49194400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:49194000-49195000	Enhancers	Fetal Lung	lung
22	chr8:49194000-49195000	Enhancers	NH-A	brain
23	chr8:49194200-49194600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:49194200-49195600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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