Variant report

Variant	rs8069259
Chromosome Location	chr17:17022841-17022842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17022152..17024534-chr17:17033092..17034855,2	MCF-7	breast:
2	chr17:17017540..17019089-chr17:17022012..17023742,2	MCF-7	breast:
3	chr17:17020278..17022879-chr17:17024939..17027865,2	K562	blood:
4	chr17:17016476..17019464-chr17:17021686..17024565,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1047799	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1047805	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10852844	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10852846	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11078368	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078371	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078372	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11078373	0.92[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1110505	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11551189	0.95[ASN][1000 genomes]
rs11651460	0.88[MEX][hapmap]
rs11651938	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11652678	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11654887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11657189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11658084	0.88[MEX][hapmap]
rs11870035	0.97[ASN][1000 genomes]
rs11870483	0.87[ASN][1000 genomes]
rs12451343	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12452303	0.86[AMR][1000 genomes]
rs12601422	0.94[CHB][hapmap];0.83[CHD][hapmap]
rs12602124	0.86[AMR][1000 genomes]
rs12602583	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12602592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12602839	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12603417	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1567815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16961412	0.88[MEX][hapmap]
rs17794784	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2292526	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292530	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2349645	0.97[ASN][1000 genomes]
rs2349648	0.87[ASN][1000 genomes]
rs28452405	0.86[ASN][1000 genomes]
rs34001712	0.86[ASN][1000 genomes]
rs34976658	0.89[ASN][1000 genomes]
rs35650871	0.83[ASN][1000 genomes]
rs3744125	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3744127	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3744131	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3744132	0.92[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744133	0.88[MEX][hapmap]
rs3744134	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs3744136	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3744137	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3744138	0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3744139	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3744140	0.88[MEX][hapmap]
rs3826305	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4073688	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4073940	0.94[MEX][hapmap];0.86[AMR][1000 genomes]
rs4074612	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4074819	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4283273	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4321246	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4606773	0.88[MEX][hapmap]
rs4629023	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985703	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985704	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985714	0.88[MEX][hapmap]
rs4985715	0.86[AMR][1000 genomes]
rs4985716	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985721	0.86[ASN][1000 genomes]
rs4985723	0.86[AMR][1000 genomes]
rs4985728	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985730	0.87[ASN][1000 genomes]
rs4985737	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985739	0.88[MEX][hapmap]
rs4985741	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4985742	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];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985745	0.89[ASN][1000 genomes]
rs56133536	0.97[ASN][1000 genomes]
rs57729820	0.84[ASN][1000 genomes]
rs58326998	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59394251	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60128647	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7211576	0.89[ASN][1000 genomes]
rs7212275	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7214429	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7216677	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7217970	0.88[MEX][hapmap]
rs7218781	0.92[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[TSI][hapmap]
rs7223924	0.86[AMR][1000 genomes]
rs73979060	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73979078	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8066111	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8066234	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8071254	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8076273	0.83[CHB][hapmap]
rs8077360	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9893676	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9897510	0.95[ASN][1000 genomes]
rs9906028	0.83[ASN][1000 genomes]
rs9907109	0.84[ASN][1000 genomes]
rs9910857	0.97[ASN][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	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8069259	M-RIP	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17002600-17023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
4	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:17010200-17025000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr17:17010200-17025000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:17010400-17024000	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:17010400-17025200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:17011200-17028800	Weak transcription	Fetal Brain Female	brain
10	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:17012600-17023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:17015400-17035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:17015800-17023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:17015800-17025200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr17:17015800-17030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:17016400-17025000	Enhancers	Brain Substantia Nigra	brain
17	chr17:17016800-17025400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr17:17017600-17025000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr17:17017600-17025000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr17:17017600-17025000	Enhancers	Brain Hippocampus Middle	brain
21	chr17:17017600-17025200	Enhancers	Fetal Heart	heart
22	chr17:17017800-17025000	Enhancers	Left Ventricle	heart
23	chr17:17017800-17025000	Enhancers	Ovary	ovary
24	chr17:17017800-17025000	Enhancers	Right Atrium	heart
25	chr17:17017800-17025000	Enhancers	Right Ventricle	heart
26	chr17:17017800-17025000	Enhancers	Spleen	Spleen
27	chr17:17018000-17025000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:17018000-17025000	Genic enhancers	Fetal Intestine Small	intestine
29	chr17:17018000-17025000	Enhancers	Pancreas	Pancrea
30	chr17:17018400-17024400	Genic enhancers	Fetal Stomach	stomach
31	chr17:17018800-17023400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr17:17018800-17025000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr17:17018800-17027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:17019200-17028800	Weak transcription	HSMMtube	muscle
35	chr17:17019400-17025000	Enhancers	Fetal Thymus	thymus
36	chr17:17019600-17025000	Enhancers	Fetal Lung	lung
37	chr17:17019800-17023000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:17019800-17031200	Weak transcription	Hela-S3	cervix
39	chr17:17020200-17023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:17020200-17025400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:17020400-17023000	Enhancers	Primary T cells from cord blood	blood
42	chr17:17020400-17024400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:17020400-17024800	Enhancers	Liver	Liver
44	chr17:17020600-17023600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr17:17020600-17023800	Enhancers	GM12878-XiMat	blood
46	chr17:17020600-17024600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:17020600-17024800	Enhancers	Duodenum Mucosa	Duodenum
48	chr17:17020800-17024400	Enhancers	Thymus	Thymus
49	chr17:17020800-17025000	Enhancers	Fetal Intestine Large	intestine
50	chr17:17020800-17026200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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