Variant report

Variant	rs4985703
Chromosome Location	chr17:17042585-17042586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17042401-17042730	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17041398..17043468-chr17:17045137..17047861,3	K562	blood:
2	chr17:17042215..17045044-chr17:17066488..17068871,2	K562	blood:
3	chr17:17041998..17043566-chr17:17047044..17048728,2	MCF-7	breast:
4	chr17:17038716..17041244-chr17:17042490..17044095,2	K562	blood:
5	chr17:17032608..17034755-chr17:17042355..17044187,2	K562	blood:

No data

Variant related genes	Relation type
MPRIP	TF binding region
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs1047799	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1047805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10852843	0.90[AMR][1000 genomes]
rs10852844	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10852845	0.90[AMR][1000 genomes]
rs10852846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11078364	0.83[AMR][1000 genomes]
rs11078365	0.88[AMR][1000 genomes]
rs11078368	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078370	0.90[AMR][1000 genomes]
rs11078371	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078372	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11078373	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078375	0.95[AMR][1000 genomes]
rs1110504	0.95[AMR][1000 genomes]
rs1110505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11551189	0.96[ASN][1000 genomes]
rs11651460	0.95[AMR][1000 genomes]
rs11651938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651988	0.90[AMR][1000 genomes]
rs11652079	0.95[AMR][1000 genomes]
rs11652678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11657189	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11658084	0.90[AMR][1000 genomes]
rs11870035	0.98[ASN][1000 genomes]
rs11870483	0.88[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	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12452802	0.95[AMR][1000 genomes]
rs12601325	0.95[AMR][1000 genomes]
rs12601422	0.94[CHB][hapmap]
rs12602129	0.90[AMR][1000 genomes]
rs12602583	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12602592	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12602839	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12602867	0.95[AMR][1000 genomes]
rs12603417	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1567815	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16961288	0.90[AMR][1000 genomes]
rs16961412	0.88[AMR][1000 genomes]
rs17794784	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2292526	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]
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];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744127	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[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];0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3744133	0.95[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];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	0.95[AMR][1000 genomes]
rs3826305	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4073688	0.91[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4074611	0.90[AMR][1000 genomes]
rs4074612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4074819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264448	0.90[AMR][1000 genomes]
rs4275916	0.90[AMR][1000 genomes]
rs4283273	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4321246	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4606773	0.90[AMR][1000 genomes]
rs4621033	0.90[AMR][1000 genomes]
rs4629023	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985695	0.90[AMR][1000 genomes]
rs4985697	0.90[AMR][1000 genomes]
rs4985698	0.90[AMR][1000 genomes]
rs4985704	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985714	0.90[AMR][1000 genomes]
rs4985716	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4985719	0.90[AMR][1000 genomes]
rs4985721	0.86[ASN][1000 genomes]
rs4985727	0.90[AMR][1000 genomes]
rs4985728	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985730	0.88[ASN][1000 genomes]
rs4985737	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985739	0.95[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];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985743	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985744	0.95[AMR][1000 genomes]
rs4985745	0.90[ASN][1000 genomes]
rs4985747	0.90[AMR][1000 genomes]
rs55751545	0.95[AMR][1000 genomes]
rs56009207	0.90[AMR][1000 genomes]
rs56133536	0.98[ASN][1000 genomes]
rs57729820	0.85[ASN][1000 genomes]
rs57812549	0.93[AMR][1000 genomes]
rs58326998	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58472573	0.90[AMR][1000 genomes]
rs58814183	0.90[AMR][1000 genomes]
rs59394251	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60128647	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61018209	0.95[AMR][1000 genomes]
rs61242604	0.80[ASN][1000 genomes]
rs7207187	0.90[AMR][1000 genomes]
rs7210339	0.90[AMR][1000 genomes]
rs7211576	0.90[ASN][1000 genomes]
rs7212275	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7214429	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7216677	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217970	0.95[AMR][1000 genomes]
rs7218781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[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];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73979061	0.90[AMR][1000 genomes]
rs73979078	0.83[EUR][1000 genomes];0.89[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]
rs8066111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8066234	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8067563	0.90[AMR][1000 genomes]
rs8069259	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8071254	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8076273	0.84[CHB][hapmap]
rs8077360	0.94[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
rs4985703	M-RIP	Cis_1M	lymphoblastoid	RTeQTL
rs4985703	LOC201164	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17024200-17043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:17024600-17045600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17027400-17043000	Strong transcription	NHEK	skin
4	chr17:17027400-17043400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:17029800-17043400	Strong transcription	NHLF	lung
6	chr17:17029800-17044200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:17029800-17088400	Strong transcription	Dnd41	blood
8	chr17:17030000-17042800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:17030000-17042800	Strong transcription	A549	lung
10	chr17:17030000-17043200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:17030000-17043200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:17030000-17043600	Strong transcription	Esophagus	oesophagus
13	chr17:17030000-17048200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:17030000-17052200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr17:17030200-17042800	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr17:17030200-17043800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:17030200-17051600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr17:17030400-17043800	Strong transcription	Adipose Nuclei	Adipose
21	chr17:17030400-17044800	Strong transcription	Primary B cells from cord blood	blood
22	chr17:17030400-17047600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:17030400-17047800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
26	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
28	chr17:17030600-17042800	Strong transcription	Osteobl	bone
29	chr17:17030600-17045000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr17:17030600-17051000	Strong transcription	Colonic Mucosa	Colon
31	chr17:17030800-17042800	Strong transcription	Thymus	Thymus
32	chr17:17030800-17043400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:17031000-17043600	Strong transcription	HSMM	muscle
34	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
36	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr17:17031400-17051800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
40	chr17:17032200-17044000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr17:17032200-17048200	Weak transcription	Right Atrium	heart
42	chr17:17032200-17051800	Strong transcription	Pancreas	Pancrea
43	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:17032400-17051600	Strong transcription	Gastric	stomach
45	chr17:17033000-17043600	Strong transcription	HSMMtube	muscle
46	chr17:17033000-17045000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr17:17033200-17043000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr17:17033200-17043200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:17033200-17043600	Strong transcription	Lung	lung
50	chr17:17033400-17051000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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