Variant report

Variant	rs8066111
Chromosome Location	chr17:17020375-17020376
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17011485..17013573-chr17:17019778..17021863,2	MCF-7	breast:
2	chr17:17020278..17022879-chr17:17024939..17027865,2	K562	blood:
3	chr17:17014931..17017643-chr17:17019821..17021328,2	K562	blood:
4	chr17:16991616..16993705-chr17:17019243..17022141,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs1047799	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1047805	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10852843	0.90[AMR][1000 genomes]
rs10852844	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10852845	0.90[AMR][1000 genomes]
rs10852846	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11078364	0.83[AMR][1000 genomes]
rs11078365	0.88[AMR][1000 genomes]
rs11078368	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078370	0.90[AMR][1000 genomes]
rs11078371	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078372	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078373	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078375	0.95[AMR][1000 genomes]
rs1110504	0.95[AMR][1000 genomes]
rs1110505	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11551189	0.93[ASN][1000 genomes]
rs11651460	0.95[AMR][1000 genomes]
rs11651938	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11651988	0.90[AMR][1000 genomes]
rs11652079	0.95[AMR][1000 genomes]
rs11652678	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11652756	0.90[AMR][1000 genomes]
rs11652936	0.90[AMR][1000 genomes]
rs11654247	0.95[AMR][1000 genomes]
rs11654360	0.86[AMR][1000 genomes]
rs11654562	0.88[AMR][1000 genomes]
rs11654887	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11657189	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11658084	0.90[AMR][1000 genomes]
rs11870035	0.94[ASN][1000 genomes]
rs11870483	0.85[ASN][1000 genomes]
rs12450109	0.90[AMR][1000 genomes]
rs12450213	0.88[AMR][1000 genomes]
rs12450238	0.88[AMR][1000 genomes]
rs12450467	0.90[AMR][1000 genomes]
rs12451054	0.90[AMR][1000 genomes]
rs12451343	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12452802	0.95[AMR][1000 genomes]
rs12601325	0.95[AMR][1000 genomes]
rs12601422	0.82[CHB][hapmap]
rs12602129	0.90[AMR][1000 genomes]
rs12602583	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12602592	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12602839	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12602867	0.95[AMR][1000 genomes]
rs12603417	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1567815	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16961288	0.90[AMR][1000 genomes]
rs16961412	0.88[AMR][1000 genomes]
rs17794784	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2292526	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292530	0.84[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2349645	0.94[ASN][1000 genomes]
rs2349648	0.85[ASN][1000 genomes]
rs28452405	0.83[ASN][1000 genomes]
rs34001712	0.83[ASN][1000 genomes]
rs34976658	0.86[ASN][1000 genomes]
rs3744125	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3744127	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3744131	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3744132	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3744133	0.95[AMR][1000 genomes]
rs3744134	0.84[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3744136	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744137	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3744138	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3744139	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3744140	0.95[AMR][1000 genomes]
rs3826305	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073688	0.91[CEU][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4074611	0.90[AMR][1000 genomes]
rs4074612	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4264448	0.90[AMR][1000 genomes]
rs4275916	0.90[AMR][1000 genomes]
rs4283273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4321246	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4606773	0.90[AMR][1000 genomes]
rs4621033	0.90[AMR][1000 genomes]
rs4629023	0.91[CEU][hapmap];0.89[CHB][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985695	0.90[AMR][1000 genomes]
rs4985697	0.90[AMR][1000 genomes]
rs4985698	0.90[AMR][1000 genomes]
rs4985703	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985704	0.91[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985714	0.90[AMR][1000 genomes]
rs4985716	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985719	0.90[AMR][1000 genomes]
rs4985721	0.83[ASN][1000 genomes]
rs4985727	0.90[AMR][1000 genomes]
rs4985728	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985730	0.85[ASN][1000 genomes]
rs4985737	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985739	0.95[AMR][1000 genomes]
rs4985741	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4985742	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985743	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985744	0.95[AMR][1000 genomes]
rs4985745	0.86[ASN][1000 genomes]
rs4985747	0.90[AMR][1000 genomes]
rs55751545	0.95[AMR][1000 genomes]
rs56009207	0.90[AMR][1000 genomes]
rs56133536	0.94[ASN][1000 genomes]
rs57729820	0.81[ASN][1000 genomes]
rs57812549	0.93[AMR][1000 genomes]
rs58326998	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58472573	0.90[AMR][1000 genomes]
rs58814183	0.90[AMR][1000 genomes]
rs59394251	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60128647	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61018209	0.95[AMR][1000 genomes]
rs7207187	0.90[AMR][1000 genomes]
rs7210339	0.90[AMR][1000 genomes]
rs7211576	0.86[ASN][1000 genomes]
rs7212275	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7214429	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7216677	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7217970	0.95[AMR][1000 genomes]
rs7218781	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7223583	0.90[AMR][1000 genomes]
rs73979053	0.83[AMR][1000 genomes]
rs73979054	0.90[AMR][1000 genomes]
rs73979058	0.90[AMR][1000 genomes]
rs73979060	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979061	0.90[AMR][1000 genomes]
rs73979078	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979081	0.90[AMR][1000 genomes]
rs73979082	0.90[AMR][1000 genomes]
rs73979083	0.90[AMR][1000 genomes]
rs8064991	0.95[AMR][1000 genomes]
rs8066234	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8067563	0.90[AMR][1000 genomes]
rs8069259	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8071254	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8077360	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9893676	0.93[ASN][1000 genomes]
rs9897510	0.93[ASN][1000 genomes]
rs9907109	0.81[ASN][1000 genomes]
rs9910857	0.94[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8066111	M-RIP	Cis_1M	lymphoblastoid	RTeQTL
rs8066111	LOC201164	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 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	chr17:17007800-17021000	Weak transcription	HepG2	liver
4	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
5	chr17:17009400-17020600	Enhancers	Lung	lung
6	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:17010200-17021600	Weak transcription	Dnd41	blood
8	chr17:17010200-17025000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:17010200-17025000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:17010400-17024000	Enhancers	Primary B cells from peripheral blood	blood
11	chr17:17010400-17025200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:17011200-17028800	Weak transcription	Fetal Brain Female	brain
13	chr17:17011400-17021600	Weak transcription	Aorta	Aorta
14	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:17012600-17023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:17014000-17022200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr17:17015400-17035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:17015800-17020800	Enhancers	Psoas Muscle	Psoas
19	chr17:17015800-17023000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:17015800-17025200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr17:17015800-17030000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr17:17016400-17022400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr17:17016400-17025000	Enhancers	Brain Substantia Nigra	brain
24	chr17:17016800-17025400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr17:17017600-17022200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr17:17017600-17025000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr17:17017600-17025000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr17:17017600-17025000	Enhancers	Brain Hippocampus Middle	brain
29	chr17:17017600-17025200	Enhancers	Fetal Heart	heart
30	chr17:17017800-17021800	Enhancers	Gastric	stomach
31	chr17:17017800-17025000	Enhancers	Left Ventricle	heart
32	chr17:17017800-17025000	Enhancers	Ovary	ovary
33	chr17:17017800-17025000	Enhancers	Right Atrium	heart
34	chr17:17017800-17025000	Enhancers	Right Ventricle	heart
35	chr17:17017800-17025000	Enhancers	Spleen	Spleen
36	chr17:17018000-17022800	Weak transcription	Fetal Kidney	kidney
37	chr17:17018000-17025000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr17:17018000-17025000	Genic enhancers	Fetal Intestine Small	intestine
39	chr17:17018000-17025000	Enhancers	Pancreas	Pancrea
40	chr17:17018200-17020600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:17018400-17020600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:17018400-17020600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:17018400-17024400	Genic enhancers	Fetal Stomach	stomach
44	chr17:17018600-17020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:17018600-17020400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr17:17018600-17020600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr17:17018600-17020600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr17:17018600-17021600	Weak transcription	NH-A	brain
49	chr17:17018600-17022000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:17018800-17020600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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