Variant report

Variant	rs7011118
Chromosome Location	chr8:49185102-49185103
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49178740..49180678-chr8:49182631..49185372,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11995012	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261342	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13261537	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap]
rs13268843	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13270488	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13276825	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13282134	0.85[ASN][1000 genomes]
rs13282865	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4347021	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4552930	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4552931	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55634172	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55653841	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55697403	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55723686	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55738586	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55777725	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55816658	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55828804	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55878633	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55996401	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56005426	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56005944	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56099275	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56129629	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56252522	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56316010	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56336375	0.87[ASN][1000 genomes]
rs6981583	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989759	1.00[YRI][hapmap]
rs6997499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998518	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7008884	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7016696	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017974	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816954	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7829495	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829616	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829764	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830222	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832085	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836185	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836200	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7845258	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49173400-49186400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:49174200-49186400	Weak transcription	Right Atrium	heart
3	chr8:49175000-49186600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:49181200-49185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:49181400-49185200	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:49182200-49186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:49182400-49186000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:49182400-49186200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:49182400-49186200	Weak transcription	Osteobl	bone
10	chr8:49182400-49186400	Weak transcription	Esophagus	oesophagus
11	chr8:49182600-49186600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:49183000-49186200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:49183000-49186200	Weak transcription	NHLF	lung
14	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:49183200-49186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:49183400-49186400	Weak transcription	Fetal Kidney	kidney
17	chr8:49183400-49186400	Weak transcription	HSMM	muscle
18	chr8:49183800-49186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:49183800-49186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:49183800-49186400	Weak transcription	Stomach Mucosa	stomach
21	chr8:49184400-49185200	Enhancers	Small Intestine	intestine
22	chr8:49184400-49186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:49184400-49186200	Weak transcription	Fetal Lung	lung
24	chr8:49184400-49186200	Weak transcription	NHDF-Ad	bronchial
25	chr8:49184400-49186400	Weak transcription	Adipose Nuclei	Adipose
26	chr8:49184400-49186600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:49184600-49186000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:49184600-49186000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:49184600-49186200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:49184800-49185200	ZNF genes & repeats	Fetal Stomach	stomach
31	chr8:49185000-49185200	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:49185000-49185200	Enhancers	Fetal Muscle Leg	muscle
33	chr8:49185000-49186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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