Variant report

Variant	rs4283273
Chromosome Location	chr17:17088426-17088427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:17088273-17088498	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr17:17088381-17088491	Kidney_OC	kidney:	n/a	n/a
3	POLR2A	chr17:17088414-17088465	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17086210..17088657-chr17:17181524..17183953,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C17orf84-1	chr17:17087243-17091977	predAs_engstrom06_CD171782_1

Variant related genes	Relation type
MPRIP	TF binding region

Extended variants
information (count: 135 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs1047799	0.95[ASN][1000 genomes]
rs1047805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852843	0.90[AMR][1000 genomes]
rs10852844	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10852845	0.90[AMR][1000 genomes]
rs10852846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11078364	0.83[AMR][1000 genomes]
rs11078365	0.88[AMR][1000 genomes]
rs11078368	0.81[ASN][1000 genomes]
rs11078370	0.90[AMR][1000 genomes]
rs11078371	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11078372	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11078373	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078375	0.95[AMR][1000 genomes]
rs1110504	0.95[AMR][1000 genomes]
rs1110505	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11551189	0.91[ASN][1000 genomes]
rs11651460	0.95[AMR][1000 genomes]
rs11651938	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11651988	0.90[AMR][1000 genomes]
rs11652079	0.95[AMR][1000 genomes]
rs11652678	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11657189	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658084	0.90[AMR][1000 genomes]
rs11870035	0.90[ASN][1000 genomes]
rs11870483	0.80[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	0.80[EUR][1000 genomes]
rs12452802	0.95[AMR][1000 genomes]
rs12601325	0.95[AMR][1000 genomes]
rs12602129	0.90[AMR][1000 genomes]
rs12602583	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602592	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602839	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12602867	0.95[AMR][1000 genomes]
rs12603417	0.81[ASN][1000 genomes]
rs1567815	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16961288	0.90[AMR][1000 genomes]
rs16961412	0.88[AMR][1000 genomes]
rs17794784	0.94[ASN][1000 genomes]
rs2292526	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292530	0.94[ASN][1000 genomes]
rs2349645	0.90[ASN][1000 genomes]
rs2349648	0.80[ASN][1000 genomes]
rs34976658	0.98[ASN][1000 genomes]
rs3744125	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744127	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3744131	0.91[ASN][1000 genomes]
rs3744132	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744133	0.95[AMR][1000 genomes]
rs3744134	0.90[ASN][1000 genomes]
rs3744136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3744137	0.90[ASN][1000 genomes]
rs3744138	0.90[ASN][1000 genomes]
rs3744139	0.90[ASN][1000 genomes]
rs3744140	0.95[AMR][1000 genomes]
rs3826305	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4074611	0.90[AMR][1000 genomes]
rs4074612	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4074819	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4264448	0.90[AMR][1000 genomes]
rs4275916	0.90[AMR][1000 genomes]
rs4321246	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4606773	0.90[AMR][1000 genomes]
rs4621033	0.90[AMR][1000 genomes]
rs4629023	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4985695	0.90[AMR][1000 genomes]
rs4985697	0.90[AMR][1000 genomes]
rs4985698	0.90[AMR][1000 genomes]
rs4985703	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985704	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985714	0.90[AMR][1000 genomes]
rs4985716	0.80[EUR][1000 genomes]
rs4985719	0.90[AMR][1000 genomes]
rs4985727	0.90[AMR][1000 genomes]
rs4985728	0.81[ASN][1000 genomes]
rs4985730	0.80[ASN][1000 genomes]
rs4985737	0.92[ASN][1000 genomes]
rs4985739	0.95[AMR][1000 genomes]
rs4985741	0.98[ASN][1000 genomes]
rs4985742	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985743	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985744	0.95[AMR][1000 genomes]
rs4985745	0.94[ASN][1000 genomes]
rs4985747	0.90[AMR][1000 genomes]
rs55751545	0.95[AMR][1000 genomes]
rs56009207	0.90[AMR][1000 genomes]
rs56133536	0.90[ASN][1000 genomes]
rs57812549	0.93[AMR][1000 genomes]
rs58326998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58472573	0.90[AMR][1000 genomes]
rs58814183	0.90[AMR][1000 genomes]
rs59394251	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60128647	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61018209	0.95[AMR][1000 genomes]
rs7207187	0.90[AMR][1000 genomes]
rs7210339	0.90[AMR][1000 genomes]
rs7211576	0.98[ASN][1000 genomes]
rs7212275	0.80[EUR][1000 genomes]
rs7214429	0.91[ASN][1000 genomes]
rs7216677	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7217970	0.95[AMR][1000 genomes]
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];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73979061	0.90[AMR][1000 genomes]
rs73979078	0.81[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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8066234	0.94[ASN][1000 genomes]
rs8067563	0.90[AMR][1000 genomes]
rs8069259	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8071254	0.80[EUR][1000 genomes]
rs8077360	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9893676	0.91[ASN][1000 genomes]
rs9895060	0.85[ASN][1000 genomes]
rs9897510	0.91[ASN][1000 genomes]
rs9910857	0.90[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	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4283273	M-RIP	Cis_1M	lymphoblastoid	RTeQTL
rs4283273	LOC201164	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
2	chr17:17038400-17093800	Strong transcription	Fetal Brain Female	brain
3	chr17:17045200-17093800	Strong transcription	Fetal Stomach	stomach
4	chr17:17051000-17093200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:17055200-17089400	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr17:17055600-17092600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr17:17055800-17092600	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:17056000-17093600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:17056200-17092400	Strong transcription	Stomach Smooth Muscle	stomach
10	chr17:17056600-17093600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:17056800-17095000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:17059400-17089000	Strong transcription	A549	lung
13	chr17:17060400-17093400	Strong transcription	Liver	Liver
14	chr17:17060600-17088800	Strong transcription	Fetal Intestine Small	intestine
15	chr17:17060600-17089200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:17060800-17089000	Strong transcription	NHLF	lung
17	chr17:17060800-17089400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr17:17060800-17093600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:17061400-17089000	Strong transcription	Osteobl	bone
20	chr17:17061400-17090200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr17:17067800-17092200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr17:17075200-17089000	Strong transcription	Brain Angular Gyrus	brain
23	chr17:17076000-17088600	Strong transcription	NHEK	skin
24	chr17:17076200-17089000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:17076200-17092600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:17076200-17094600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr17:17076600-17104600	Weak transcription	K562	blood
28	chr17:17080800-17090800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr17:17082800-17089600	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr17:17082800-17091000	Genic enhancers	Fetal Thymus	thymus
31	chr17:17083400-17090800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:17083600-17093200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:17083800-17088800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:17084200-17092400	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr17:17084400-17088800	Weak transcription	Stomach Mucosa	stomach
36	chr17:17084400-17093400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr17:17084400-17095200	Weak transcription	Fetal Kidney	kidney
38	chr17:17084800-17089000	Weak transcription	Small Intestine	intestine
39	chr17:17084800-17091400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr17:17084800-17094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:17084800-17094800	Weak transcription	Fetal Brain Male	brain
42	chr17:17085600-17089200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:17085600-17094800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr17:17085800-17088600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:17085800-17088800	Strong transcription	Aorta	Aorta
46	chr17:17085800-17089200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:17085800-17090800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:17086000-17090200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr17:17086000-17090200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr17:17086000-17090600	Enhancers	Primary T helper cells PMA-I stimulated	--

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