Variant report

Variant	rs4286973
Chromosome Location	chr8:49183707-49183708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49178919..49181717-chr8:49182631..49184742,3	K562	blood:
2	chr8:49183187..49183854-chr8:49233346..49234106,2	MCF-7	breast:
3	chr8:49178740..49180678-chr8:49182631..49185372,2	K562	blood:
4	chr8:49182446..49185035-chr8:49185453..49187030,2	K562	blood:
5	chr20:46012558..46013128-chr8:49183132..49183782,2	MCF-7	breast:
6	chr8:49183296..49184181-chr8:49838030..49838650,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

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	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];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	0.91[CHB][hapmap];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]
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]
rs4873081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873272	0.85[ASN][1000 genomes]
rs4873788	0.88[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7008284	0.91[CHB][hapmap];0.82[CHD][hapmap];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]
rs7844929	0.83[MKK][hapmap]
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:37 , 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	chr8:49181000-49184600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49181200-49184400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:49181200-49184400	Enhancers	Adipose Nuclei	Adipose
7	chr8:49181200-49184400	Enhancers	Fetal Lung	lung
8	chr8:49181200-49185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:49181400-49184600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:49181400-49185200	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:49181600-49184600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:49182200-49186400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:49182400-49184600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr8:49182400-49186000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:49182400-49186200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:49182400-49186200	Weak transcription	Osteobl	bone
17	chr8:49182400-49186400	Weak transcription	Esophagus	oesophagus
18	chr8:49182600-49184600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:49182600-49186600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:49182800-49183800	Enhancers	Lung	lung
21	chr8:49182800-49184400	Enhancers	Duodenum Mucosa	Duodenum
22	chr8:49183000-49183800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:49183000-49183800	Enhancers	Stomach Mucosa	stomach
24	chr8:49183000-49183800	Active TSS	Spleen	Spleen
25	chr8:49183000-49186200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:49183000-49186200	Weak transcription	NHLF	lung
27	chr8:49183000-49201400	Weak transcription	Fetal Intestine Small	intestine
28	chr8:49183200-49184400	Enhancers	NHDF-Ad	bronchial
29	chr8:49183200-49186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:49183400-49184400	Weak transcription	Small Intestine	intestine
31	chr8:49183400-49186400	Weak transcription	Fetal Kidney	kidney
32	chr8:49183400-49186400	Weak transcription	HSMM	muscle
33	chr8:49183600-49183800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:49183600-49183800	Enhancers	Colonic Mucosa	Colon
35	chr8:49183600-49184200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:49183600-49184400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr8:49183600-49184600	Genic enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links