Variant report

Variant	rs1805855
Chromosome Location	chr8:91016756-91016757
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	POLR2A	chr8:91016594-91017816	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90769284..90770792-chr8:91016368..91018006,2	MCF-7	breast:
2	chr8:91016481..91019330-chr8:91020288..91024587,4	MCF-7	breast:
3	chr8:91010711..91015173-chr8:91016537..91023019,10	MCF-7	breast:
4	chr8:91015944..91018143-chr8:91550446..91553140,2	K562	blood:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10435550	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10435551	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10504888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12675530	1.00[JPT][hapmap];0.93[MEX][hapmap]
rs13312921	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13312954	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16893166	0.85[CHB][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap]
rs16901941	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16902273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16902355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16902558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805811	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805815	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805824	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805826	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805837	0.92[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805839	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805850	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805885	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805888	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805892	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805894	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805901	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805902	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805907	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805911	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1805912	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1805914	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1805915	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2074594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2267542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280779	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3026287	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3358	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3758145	1.00[JPT][hapmap]
rs4477076	0.81[EUR][1000 genomes]
rs6989727	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73306482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769418	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7818138	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7822786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7826471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834282	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7844005	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv8365	chr8:91014360-91019600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91017400	Weak transcription	Spleen	Spleen
2	chr8:91014600-91017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:91014600-91018000	Weak transcription	Aorta	Aorta
4	chr8:91014600-91021200	Weak transcription	Gastric	stomach
5	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:91014800-91017200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:91014800-91017200	Weak transcription	Lung	lung
9	chr8:91014800-91017600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:91014800-91018000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:91014800-91018000	Weak transcription	Psoas Muscle	Psoas
12	chr8:91014800-91018000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:91014800-91018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:91014800-91018800	Weak transcription	Fetal Brain Female	brain
15	chr8:91014800-91022200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:91014800-91022400	Weak transcription	Ovary	ovary
17	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
19	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
20	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
23	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
26	chr8:91015000-91016800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:91015000-91017000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:91015000-91017200	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:91015000-91017400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:91015000-91019600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:91015000-91021600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:91015000-91024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:91015000-91031200	Weak transcription	Brain Angular Gyrus	brain
34	chr8:91015000-91031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:91015200-91016800	Enhancers	Thymus	Thymus
36	chr8:91015200-91017400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr8:91015200-91018600	Enhancers	HMEC	breast
38	chr8:91015200-91022000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr8:91015200-91025000	Weak transcription	NHLF	lung
40	chr8:91015400-91017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:91015400-91017200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:91015400-91017200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:91015400-91017200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:91015400-91017200	Weak transcription	Fetal Thymus	thymus
45	chr8:91015400-91017400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:91015400-91017400	Weak transcription	Fetal Lung	lung
47	chr8:91015400-91017400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:91015400-91017600	Enhancers	Primary T cells from cord blood	blood
49	chr8:91015400-91017800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:91015400-91017800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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