Variant report

Variant	rs2292526
Chromosome Location	chr17:17030475-17030476
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs1047799	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1047805	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10852843	0.86[AMR][1000 genomes]
rs10852844	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10852845	0.86[AMR][1000 genomes]
rs10852846	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11078365	0.84[AMR][1000 genomes]
rs11078368	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078370	0.86[AMR][1000 genomes]
rs11078371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078372	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11078373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078375	0.91[AMR][1000 genomes]
rs1110504	0.91[AMR][1000 genomes]
rs1110505	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11551189	0.96[ASN][1000 genomes]
rs11651460	0.91[AMR][1000 genomes]
rs11651938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651988	0.86[AMR][1000 genomes]
rs11652079	0.91[AMR][1000 genomes]
rs11652678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652756	0.86[AMR][1000 genomes]
rs11652936	0.86[AMR][1000 genomes]
rs11654247	0.91[AMR][1000 genomes]
rs11654360	0.91[AMR][1000 genomes]
rs11654562	0.84[AMR][1000 genomes]
rs11654887	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11657189	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11658084	0.86[AMR][1000 genomes]
rs11870035	0.98[ASN][1000 genomes]
rs11870483	0.88[ASN][1000 genomes]
rs12450109	0.86[AMR][1000 genomes]
rs12450213	0.84[AMR][1000 genomes]
rs12450238	0.84[AMR][1000 genomes]
rs12450467	0.86[AMR][1000 genomes]
rs12451054	0.86[AMR][1000 genomes]
rs12451343	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12452802	0.91[AMR][1000 genomes]
rs12601325	0.91[AMR][1000 genomes]
rs12601422	0.94[CHB][hapmap]
rs12602129	0.86[AMR][1000 genomes]
rs12602583	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12602592	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12602839	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12602867	0.91[AMR][1000 genomes]
rs12603417	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1567815	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16961288	0.86[AMR][1000 genomes]
rs16961412	0.84[AMR][1000 genomes]
rs17794784	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2292530	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2349645	0.98[ASN][1000 genomes]
rs2349648	0.88[ASN][1000 genomes]
rs28452405	0.86[ASN][1000 genomes]
rs34001712	0.86[ASN][1000 genomes]
rs34976658	0.90[ASN][1000 genomes]
rs35650871	0.83[ASN][1000 genomes]
rs3744125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744127	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744131	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3744132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3744133	0.91[AMR][1000 genomes]
rs3744134	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs3744136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744137	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3744138	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3744139	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3744140	0.91[AMR][1000 genomes]
rs3826305	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073688	0.91[CEU][hapmap];0.89[CHB][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4074611	0.86[AMR][1000 genomes]
rs4074612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4074819	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264448	0.86[AMR][1000 genomes]
rs4275916	0.86[AMR][1000 genomes]
rs4283273	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4321246	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606773	0.86[AMR][1000 genomes]
rs4621033	0.86[AMR][1000 genomes]
rs4629023	0.91[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985695	0.86[AMR][1000 genomes]
rs4985697	0.86[AMR][1000 genomes]
rs4985698	0.86[AMR][1000 genomes]
rs4985703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985704	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985714	0.86[AMR][1000 genomes]
rs4985716	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985719	0.86[AMR][1000 genomes]
rs4985721	0.86[ASN][1000 genomes]
rs4985727	0.86[AMR][1000 genomes]
rs4985728	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985730	0.88[ASN][1000 genomes]
rs4985737	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985739	0.91[AMR][1000 genomes]
rs4985741	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4985742	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985743	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985744	0.91[AMR][1000 genomes]
rs4985745	0.90[ASN][1000 genomes]
rs4985747	0.86[AMR][1000 genomes]
rs55751545	0.91[AMR][1000 genomes]
rs56009207	0.86[AMR][1000 genomes]
rs56133536	0.98[ASN][1000 genomes]
rs57729820	0.85[ASN][1000 genomes]
rs57812549	0.88[AMR][1000 genomes]
rs58326998	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58472573	0.86[AMR][1000 genomes]
rs58814183	0.86[AMR][1000 genomes]
rs59394251	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60128647	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61018209	0.91[AMR][1000 genomes]
rs61242604	0.80[ASN][1000 genomes]
rs7207187	0.86[AMR][1000 genomes]
rs7210339	0.86[AMR][1000 genomes]
rs7211576	0.90[ASN][1000 genomes]
rs7212275	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7214429	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7216677	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217970	0.91[AMR][1000 genomes]
rs7218781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7223583	0.86[AMR][1000 genomes]
rs73979054	0.86[AMR][1000 genomes]
rs73979058	0.86[AMR][1000 genomes]
rs73979060	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73979061	0.86[AMR][1000 genomes]
rs73979078	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73979081	0.86[AMR][1000 genomes]
rs73979082	0.86[AMR][1000 genomes]
rs73979083	0.86[AMR][1000 genomes]
rs8064991	0.91[AMR][1000 genomes]
rs8066111	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8066234	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8067563	0.86[AMR][1000 genomes]
rs8069259	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8071254	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8076273	0.84[CHB][hapmap]
rs8077360	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893676	0.96[ASN][1000 genomes]
rs9895060	0.80[ASN][1000 genomes]
rs9897510	0.96[ASN][1000 genomes]
rs9906028	0.83[ASN][1000 genomes]
rs9907109	0.85[ASN][1000 genomes]
rs9910857	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers 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
rs2292526	LOC201164	Cis_1M	lymphoblastoid	RTeQTL
rs2292526	M-RIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:17015400-17035200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:17019800-17031200	Weak transcription	Hela-S3	cervix
6	chr17:17023200-17034200	Weak transcription	NH-A	brain
7	chr17:17023600-17030600	Weak transcription	Osteobl	bone
8	chr17:17024200-17043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:17024400-17032800	Weak transcription	HUVEC	blood vessel
10	chr17:17024400-17039800	Weak transcription	Small Intestine	intestine
11	chr17:17024600-17036000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:17024600-17045600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:17024800-17030600	Weak transcription	HepG2	liver
14	chr17:17024800-17034200	Weak transcription	Fetal Kidney	kidney
15	chr17:17025000-17031400	Weak transcription	Ovary	ovary
16	chr17:17025000-17031400	Weak transcription	Stomach Mucosa	stomach
17	chr17:17026400-17034200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:17027200-17032600	Enhancers	Psoas Muscle	Psoas
19	chr17:17027400-17031800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:17027400-17032000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:17027400-17032200	Enhancers	Right Atrium	heart
22	chr17:17027400-17042400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:17027400-17043000	Strong transcription	NHEK	skin
24	chr17:17027400-17043400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr17:17027600-17030800	Enhancers	Brain Angular Gyrus	brain
26	chr17:17027600-17033400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:17027800-17031000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr17:17027800-17032200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr17:17028000-17032000	Enhancers	Fetal Heart	heart
30	chr17:17028000-17038200	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr17:17028200-17032400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:17028200-17036600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr17:17028400-17030800	Enhancers	HSMM	muscle
34	chr17:17028400-17031800	Genic enhancers	Fetal Stomach	stomach
35	chr17:17028800-17031000	Enhancers	HSMMtube	muscle
36	chr17:17028800-17032200	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr17:17028800-17034400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr17:17029000-17035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr17:17029200-17031600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:17029200-17034400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr17:17029400-17030800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:17029400-17031000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr17:17029400-17031200	Genic enhancers	Fetal Brain Female	brain
44	chr17:17029400-17035000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:17029600-17030600	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr17:17029600-17030600	Enhancers	Brain Anterior Caudate	brain
47	chr17:17029600-17031000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr17:17029600-17033800	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr17:17029600-17034200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr17:17029800-17030600	Genic enhancers	Colonic Mucosa	Colon

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