Variant report

Variant	rs1564117
Chromosome Location	chr8:107619553-107619554
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107617562..107623335-chr8:107668202..107671640,8	MCF-7	breast:
2	chr8:107612963..107615738-chr8:107617807..107620610,3	MCF-7	breast:
3	chr8:107618492..107620139-chr8:107622531..107624035,2	K562	blood:
4	chr8:107618803..107621024-chr8:107635376..107637603,2	MCF-7	breast:
5	chr8:107616759..107623874-chr8:107668754..107672668,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253582	Chromatin interaction
ENSG00000164830	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10088694	0.85[CEU][hapmap];0.87[GIH][hapmap];0.83[TSI][hapmap]
rs10089338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10096751	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];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10100453	0.82[ASN][1000 genomes]
rs10102200	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10106834	0.83[TSI][hapmap]
rs10109609	0.87[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.82[ASN][1000 genomes]
rs10112678	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10505094	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];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10505095	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989387	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];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11994815	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11994941	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12114857	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12542218	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12678817	0.89[ASN][1000 genomes]
rs13257540	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13272695	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13273300	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13277536	0.89[ASN][1000 genomes]
rs13277953	0.89[ASN][1000 genomes]
rs13281794	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs16875066	0.83[TSI][hapmap]
rs1872282	0.83[TSI][hapmap]
rs1968806	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1968807	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28515157	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34566529	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35480722	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35638470	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56746010	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008064	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7462454	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7825288	0.81[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs7836690	0.89[ASN][1000 genomes]
rs7845941	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs9297384	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107601600-107669600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:107616000-107620800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:107616800-107620200	Weak transcription	Fetal Intestine Large	intestine
5	chr8:107616800-107624200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:107617000-107623400	Weak transcription	Right Atrium	heart
7	chr8:107617200-107623600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:107617200-107641000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:107617800-107619600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:107617800-107619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:107618000-107623800	Enhancers	Stomach Mucosa	stomach
12	chr8:107618200-107621400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:107618400-107621800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:107618600-107620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:107618600-107621200	Enhancers	Liver	Liver
16	chr8:107618800-107619800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:107618800-107620200	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:107618800-107620400	Enhancers	HMEC	breast
19	chr8:107618800-107620600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:107618800-107620600	Enhancers	NHEK	skin
21	chr8:107618800-107621400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:107619000-107619800	Enhancers	Brain Substantia Nigra	brain
23	chr8:107619000-107619800	Enhancers	Thymus	Thymus
24	chr8:107619000-107620200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:107619000-107620600	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:107619000-107620800	Enhancers	Colon Smooth Muscle	Colon
27	chr8:107619200-107619600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:107619200-107619800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:107619200-107619800	Enhancers	Brain Anterior Caudate	brain
30	chr8:107619200-107619800	Enhancers	Fetal Lung	lung
31	chr8:107619200-107619800	Enhancers	Fetal Stomach	stomach
32	chr8:107619200-107620000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:107619200-107621200	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:107619400-107619600	Enhancers	Fetal Thymus	thymus
35	chr8:107619400-107619800	Enhancers	Brain Hippocampus Middle	brain
36	chr8:107619400-107619800	Enhancers	Fetal Kidney	kidney
37	chr8:107619400-107619800	Enhancers	Pancreas	Pancrea
38	chr8:107619400-107619800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr8:107619400-107620000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr8:107619400-107620000	Enhancers	Fetal Heart	heart
41	chr8:107619400-107620600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr8:107619400-107620600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:107619400-107620600	Enhancers	Gastric	stomach
44	chr8:107619400-107620800	Flanking Active TSS	HepG2	liver
45	chr8:107619400-107621000	Enhancers	Placenta	Placenta
46	chr8:107619400-107621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr8:107619400-107621400	Flanking Active TSS	GM12878-XiMat	blood

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