Variant report

Variant	rs4077922
Chromosome Location	chr8:49195069-49195070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10957003	0.89[ASN][1000 genomes]
rs10957025	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10958494	0.81[CHB][hapmap]
rs11777096	0.84[ASN][1000 genomes]
rs11777512	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11779663	0.90[ASN][1000 genomes]
rs11783152	0.88[ASN][1000 genomes]
rs11783466	0.90[ASN][1000 genomes]
rs11786285	0.81[ASN][1000 genomes]
rs12155524	0.88[ASN][1000 genomes]
rs12550843	0.89[ASN][1000 genomes]
rs12679335	0.88[ASN][1000 genomes]
rs13258419	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13280326	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34664131	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35955912	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35975383	0.81[ASN][1000 genomes]
rs3935535	0.89[ASN][1000 genomes]
rs4242486	0.81[ASN][1000 genomes]
rs4286973	0.89[ASN][1000 genomes]
rs4291295	0.89[ASN][1000 genomes]
rs4357320	0.88[ASN][1000 genomes]
rs4392930	0.83[ASN][1000 genomes]
rs4480143	0.81[ASN][1000 genomes]
rs4493932	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873081	0.89[ASN][1000 genomes]
rs4873272	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873788	0.81[CHB][hapmap]
rs7008284	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7464639	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7817899	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7838270	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3325574	chr8:49194699-49198997	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:23 , 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	chr8:49190800-49197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49191000-49195200	Enhancers	NHDF-Ad	bronchial
6	chr8:49191200-49197200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:49192000-49195200	Enhancers	HMEC	breast
8	chr8:49192000-49195200	Enhancers	HUVEC	blood vessel
9	chr8:49192400-49197000	Enhancers	NHLF	lung
10	chr8:49193200-49196400	Weak transcription	Osteobl	bone
11	chr8:49193400-49196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:49194200-49195600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:49194400-49196200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:49194400-49197000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:49194800-49195200	Enhancers	Pancreas	Pancrea
16	chr8:49194800-49195400	Enhancers	Spleen	Spleen
17	chr8:49194800-49196200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:49194800-49196400	Weak transcription	NHEK	skin
19	chr8:49194800-49196600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:49195000-49195800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:49195000-49196000	Weak transcription	NH-A	brain
22	chr8:49195000-49196600	Weak transcription	Fetal Lung	lung
23	chr8:49195000-49196800	Enhancers	Fetal Stomach	stomach

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