Variant report

Variant	rs4873081
Chromosome Location	chr8:49186398-49186399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49182446..49185035-chr8:49185453..49187030,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10957003	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957025	0.83[ASN][1000 genomes]
rs10958492	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10958493	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10958494	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11777096	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11777512	0.85[ASN][1000 genomes]
rs11779663	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781426	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783152	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783466	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11786285	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12155524	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550843	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679335	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681895	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13258419	0.85[ASN][1000 genomes]
rs13280326	0.85[ASN][1000 genomes]
rs34664131	0.83[ASN][1000 genomes]
rs35157243	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35955912	0.96[ASN][1000 genomes]
rs35975383	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3935535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077922	0.89[ASN][1000 genomes]
rs4242486	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4286973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4291295	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4357320	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4392930	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4480143	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4493932	0.83[ASN][1000 genomes]
rs4873272	0.85[ASN][1000 genomes]
rs4873788	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7008284	0.84[ASN][1000 genomes]
rs7464639	0.97[ASN][1000 genomes]
rs7817899	0.88[ASN][1000 genomes]
rs7838270	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9650185	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[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:44 , 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	chr8:49182200-49186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49182400-49186400	Weak transcription	Esophagus	oesophagus
6	chr8:49182600-49186600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:49183200-49186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:49183400-49186400	Weak transcription	Fetal Kidney	kidney
10	chr8:49183400-49186400	Weak transcription	HSMM	muscle
11	chr8:49183800-49186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:49183800-49186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:49183800-49186400	Weak transcription	Stomach Mucosa	stomach
14	chr8:49184400-49186400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:49184400-49186600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:49185000-49186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:49185200-49186400	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:49185200-49186400	Weak transcription	Small Intestine	intestine
19	chr8:49186000-49186800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:49186000-49186800	Enhancers	NHEK	skin
21	chr8:49186000-49188000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:49186200-49186400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:49186200-49186400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr8:49186200-49186400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:49186200-49186600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:49186200-49186600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:49186200-49186800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:49186200-49186800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:49186200-49186800	Enhancers	HMEC	breast
30	chr8:49186200-49187000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:49186200-49187000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:49186200-49187000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:49186200-49187000	Enhancers	Osteobl	bone
34	chr8:49186200-49187200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:49186200-49187200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:49186200-49187200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:49186200-49187200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr8:49186200-49187200	Enhancers	Fetal Lung	lung
39	chr8:49186200-49187200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr8:49186200-49187200	Enhancers	NH-A	brain
41	chr8:49186200-49187200	Enhancers	NHDF-Ad	bronchial
42	chr8:49186200-49187200	Enhancers	NHLF	lung
43	chr8:49186200-49187800	Enhancers	Fetal Stomach	stomach
44	chr8:49186200-49188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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