Variant report

Variant	rs17782536
Chromosome Location	chr8:11021682-11021683
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	chr8:11020358..11021978-chr8:11037750..11039962,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10087767	1.00[CHB][hapmap]
rs10088853	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10089518	1.00[CHB][hapmap]
rs10095003	1.00[ASN][1000 genomes]
rs10100660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10101329	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110684	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10503415	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs10503417	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10903337	1.00[CHB][hapmap]
rs11775489	1.00[ASN][1000 genomes]
rs11776603	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777355	1.00[ASN][1000 genomes]
rs11777887	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11777918	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11778121	1.00[CHB][hapmap]
rs11783045	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11783890	1.00[ASN][1000 genomes]
rs11785237	1.00[ASN][1000 genomes]
rs11785392	1.00[CHB][hapmap]
rs11989369	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13248014	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13248264	1.00[CHB][hapmap]
rs13248300	1.00[CHB][hapmap]
rs13249916	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13251528	1.00[CHB][hapmap]
rs13256743	1.00[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13265553	1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266785	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273857	1.00[CHB][hapmap]
rs13276708	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276836	1.00[CHB][hapmap]
rs13281566	0.87[EUR][1000 genomes]
rs17152841	1.00[CHB][hapmap]
rs17725480	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17725534	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17726209	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17779791	1.00[CHB][hapmap]
rs17782554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap]
rs2409693	1.00[CHB][hapmap]
rs2409695	1.00[CHB][hapmap]
rs2409719	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409720	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409725	1.00[ASN][1000 genomes]
rs2409726	1.00[ASN][1000 genomes]
rs2409729	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3021495	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021497	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021498	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3021501	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34309263	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34367737	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35211404	1.00[ASN][1000 genomes]
rs4291231	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412337	1.00[ASN][1000 genomes]
rs4451268	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4618656	1.00[CHB][hapmap]
rs4642600	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840548	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841486	1.00[CHB][hapmap]
rs4841497	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841499	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs67418928	1.00[ASN][1000 genomes]
rs67559300	1.00[ASN][1000 genomes]
rs71518512	1.00[ASN][1000 genomes]
rs73198943	1.00[ASN][1000 genomes]
rs7830569	0.82[EUR][1000 genomes]
rs7832722	1.00[CHB][hapmap]
rs9329238	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9657544	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv519941	chr8:11016889-11039816	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17782536	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs17782536	AF131215.2	cis	Nerve Tibial	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:11002800-11022000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:11006800-11026200	Weak transcription	HSMM	muscle
4	chr8:11009200-11024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:11012000-11022400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:11013400-11026400	Weak transcription	Esophagus	oesophagus
7	chr8:11013600-11028800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:11015600-11022400	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:11016000-11021800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11016600-11032200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:11017400-11025400	Weak transcription	HSMMtube	muscle
12	chr8:11020200-11023400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:11021000-11021800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:11021000-11021800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:11021000-11021800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:11021000-11021800	Enhancers	Pancreas	Pancrea
17	chr8:11021000-11022000	Enhancers	Primary T cells from cord blood	blood
18	chr8:11021000-11022000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:11021000-11022000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:11021000-11022000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:11021000-11022000	Flanking Active TSS	GM12878-XiMat	blood
22	chr8:11021000-11022400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:11021000-11022400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:11021000-11022600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:11021000-11022600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr8:11021200-11022000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:11021200-11022000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:11021200-11022000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:11021200-11022000	Enhancers	Fetal Thymus	thymus
30	chr8:11021200-11022400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:11021200-11022600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:11021200-11023000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:11021400-11021800	Enhancers	Gastric	stomach
34	chr8:11021400-11022000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr8:11021400-11022000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:11021400-11022400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr8:11021400-11022600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:11021400-11022600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:11021400-11022600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr8:11021400-11023000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:11021600-11021800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:11021600-11022000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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