Variant report

Variant	rs4520126
Chromosome Location	chr8:91709641-91709642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:91709091-91709696	SK-N-SH_RA	brain:	n/a	chr8:91709380-91709394 chr8:91709103-91709117

No.	Distal block	Cell Line	Cell type
1	chr8:91656804..91661563-chr8:91708196..91711491,5	MCF-7	breast:
2	chr8:91709152..91711337-chr8:91764689..91766371,2	MCF-7	breast:
3	chr8:91703739..91707372-chr8:91708045..91711511,5	K562	blood:
4	chr8:91704605..91706263-chr8:91708143..91710693,2	MCF-7	breast:
5	chr8:91705691..91710257-chr8:91923411..91927074,5	MCF-7	breast:
6	chr8:91656752..91660080-chr8:91707988..91711450,4	MCF-7	breast:
7	chr8:91658760..91661338-chr8:91707449..91709669,2	K562	blood:
8	chr8:91708540..91711261-chr8:91799440..91801904,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254182	TF binding region
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10086155	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10090406	0.89[ASN][1000 genomes]
rs10091274	0.89[ASN][1000 genomes]
rs10808624	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10808625	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10808626	0.89[ASN][1000 genomes]
rs10808630	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10956763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956765	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs10956766	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10956767	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10956768	0.87[EUR][1000 genomes]
rs10956769	0.87[EUR][1000 genomes]
rs10956770	0.96[CEU][hapmap]
rs10956775	0.93[EUR][1000 genomes]
rs10956776	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10956777	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1125502	0.83[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes]
rs11777332	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11990842	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12542205	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12542223	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12542788	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12544556	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12545337	0.93[EUR][1000 genomes]
rs12548491	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12548862	0.82[ASN][1000 genomes]
rs12550194	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12677100	0.82[CEU][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs12678287	0.82[ASN][1000 genomes]
rs12680025	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13265863	0.96[CEU][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1354516	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1394503	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1394505	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1394506	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1394507	0.93[EUR][1000 genomes]
rs1394509	0.96[CEU][hapmap]
rs1463916	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1463917	0.96[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1463918	0.96[CEU][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1463919	0.96[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1604915	0.96[CEU][hapmap]
rs16905145	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17645841	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1827667	0.82[ASN][1000 genomes]
rs1827668	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1965369	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1976495	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2339228	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2339229	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2339230	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34883198	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35547810	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3907704	0.93[EUR][1000 genomes]
rs3913687	0.93[EUR][1000 genomes]
rs4236824	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4236825	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4236826	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4236827	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs4236828	0.89[ASN][1000 genomes]
rs4275197	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4301409	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4323436	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4330649	0.86[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4330650	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs4332092	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4335090	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4335091	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4338064	0.80[ASN][1000 genomes]
rs4368938	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4376466	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4377923	0.86[CEU][hapmap];0.88[ASN][1000 genomes]
rs4377924	0.85[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4442097	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4531006	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4538831	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4606020	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4613959	0.92[EUR][1000 genomes]
rs4637779	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4642598	0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4734296	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735295	0.94[JPT][hapmap]
rs4735306	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4735308	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4735309	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4735341	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4735363	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4735367	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4735368	0.96[CEU][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55796168	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60187521	0.82[ASN][1000 genomes]
rs61540332	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6471243	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs6471245	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6471248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471251	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6471252	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs6983827	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6985723	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6993648	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6994433	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6997009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998736	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002784	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7003026	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009348	0.95[ASN][1000 genomes]
rs7017260	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7017405	0.93[EUR][1000 genomes]
rs7814682	0.96[CEU][hapmap]
rs7816709	0.96[CEU][hapmap]
rs7817599	0.96[CEU][hapmap]
rs7818125	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7821994	0.86[ASN][1000 genomes]
rs7822742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829728	0.90[EUR][1000 genomes]
rs7832679	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7835610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839617	0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7840113	0.86[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs7840203	0.86[ASN][1000 genomes]
rs7843505	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7845074	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs885497	0.86[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9643313	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91698800-91721200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91705200-91709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:91705600-91711200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:91705600-91711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:91705600-91712400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:91705800-91711600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:91705800-91712800	Weak transcription	Osteobl	bone
8	chr8:91705800-91713000	Weak transcription	NH-A	brain
9	chr8:91707200-91710000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:91707200-91713000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:91707400-91709800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:91707400-91711200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:91707400-91711800	Weak transcription	NHDF-Ad	bronchial
14	chr8:91707400-91712400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:91707400-91712600	Weak transcription	NHLF	lung
16	chr8:91707400-91713200	Weak transcription	Ovary	ovary
17	chr8:91707600-91711400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:91707600-91712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:91707800-91711800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:91707800-91713000	Weak transcription	HSMM	muscle
21	chr8:91708200-91710000	Enhancers	Fetal Intestine Large	intestine
22	chr8:91709600-91709800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links