Variant report

Variant	rs7001300
Chromosome Location	chr8:125060558-125060559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125055470..125057405-chr8:125059184..125061018,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10094266	0.83[EUR][1000 genomes]
rs10094533	0.80[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs10102566	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10106600	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs1073178	0.80[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1075051	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs10808530	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs10808531	0.83[EUR][1000 genomes]
rs10956163	0.88[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs10956164	0.80[CEU][hapmap];0.81[AMR][1000 genomes]
rs11984962	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12375254	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12541155	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs12545670	0.88[CEU][hapmap]
rs13251412	0.89[CEU][hapmap]
rs13254252	0.82[EUR][1000 genomes]
rs13254498	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs13258808	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13261097	0.80[CEU][hapmap]
rs13263969	0.86[CEU][hapmap];0.81[AMR][1000 genomes]
rs13269044	0.80[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs2069078	0.80[CEU][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs3886123	1.00[CEU][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4242353	0.89[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4294164	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap]
rs4311644	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4330676	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs4345538	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs4389914	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4392878	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4404895	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs4410885	0.83[EUR][1000 genomes]
rs4412351	0.80[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs4430074	0.80[CEU][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs4446721	0.86[TSI][hapmap]
rs4460351	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs4483140	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4484683	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4510842	0.81[MEX][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs4576412	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4870886	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4871451	1.00[CEU][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4871452	1.00[CEU][hapmap];0.80[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4871453	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871454	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871457	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4871458	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871459	1.00[CEU][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871460	0.80[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs4871461	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs4871462	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59583746	0.82[EUR][1000 genomes]
rs6470214	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470216	0.80[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs6470217	0.83[EUR][1000 genomes]
rs6470218	0.82[EUR][1000 genomes]
rs6470219	0.80[CEU][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs6470220	0.81[EUR][1000 genomes]
rs6470221	0.80[CEU][hapmap]
rs6983060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984093	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6987082	0.83[EUR][1000 genomes]
rs6991629	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs6995745	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7003992	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7005123	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs7007739	0.80[CEU][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs7009406	0.80[CEU][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs7010375	0.80[CEU][hapmap];0.81[GIH][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs7012186	0.80[CEU][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs7013226	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7815620	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap]
rs7816075	0.83[EUR][1000 genomes]
rs7822018	0.80[CEU][hapmap]
rs7822412	0.81[AMR][1000 genomes]
rs7825506	0.88[CEU][hapmap]
rs7826405	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7831422	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7832499	0.80[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs7836974	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7840702	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7841692	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7842213	1.00[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9297683	0.83[EUR][1000 genomes]
rs9297684	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs9297685	0.80[CEU][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9643188	0.80[CEU][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][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	nsv6375	chr8:125056543-125087258	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125052600-125083600	Weak transcription	Gastric	stomach
2	chr8:125053800-125062400	Weak transcription	Stomach Mucosa	stomach
3	chr8:125054200-125061000	Weak transcription	Fetal Stomach	stomach
4	chr8:125054600-125066800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:125057800-125062600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:125059000-125065600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:125059400-125060600	Enhancers	Fetal Heart	heart
8	chr8:125059800-125060600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:125060200-125060600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:125060200-125060600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125060200-125061200	Enhancers	Fetal Muscle Leg	muscle
12	chr8:125060400-125060800	Enhancers	Left Ventricle	heart
13	chr8:125060400-125061800	Bivalent Enhancer	HSMMtube	muscle

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