Variant report

Variant	rs4606773
Chromosome Location	chr17:16996394-16996395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16990029..16991902-chr17:16996139..16998027,2	K562	blood:
2	chr17:16990609..16992779-chr17:16995614..16997816,2	MCF-7	breast:
3	chr17:16980742..16983360-chr17:16994783..16996638,2	K562	blood:

Variant related genes	Relation type
ENSG00000225442	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1047805	0.90[AMR][1000 genomes]
rs10852843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852844	0.95[AMR][1000 genomes]
rs10852845	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10852846	0.90[AMR][1000 genomes]
rs11078364	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11078365	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078366	1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs11078370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078371	1.00[MEX][hapmap];0.95[AMR][1000 genomes]
rs11078372	0.95[AMR][1000 genomes]
rs11078373	1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs11078375	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1110504	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1110505	0.90[AMR][1000 genomes]
rs11651460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11651938	0.90[AMR][1000 genomes]
rs11651988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11652079	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11652674	0.87[EUR][1000 genomes]
rs11652678	0.90[AMR][1000 genomes]
rs11652756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11652936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11654360	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11654562	0.90[CHB][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11658084	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11658904	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12450109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450213	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12450238	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12450467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12451054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452303	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12452802	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12601325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12602124	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602867	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16961288	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16961412	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes]
rs1877631	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];0.82[ASN][1000 genomes]
rs2292526	0.86[AMR][1000 genomes]
rs3744125	0.90[AMR][1000 genomes]
rs3744127	0.90[AMR][1000 genomes]
rs3744132	1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs3744133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3744136	0.90[AMR][1000 genomes]
rs3744140	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3826305	0.88[AMR][1000 genomes]
rs4073940	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074612	0.86[YRI][hapmap];0.95[AMR][1000 genomes]
rs4074819	0.90[AMR][1000 genomes]
rs4264448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283273	0.90[AMR][1000 genomes]
rs4321246	0.86[AMR][1000 genomes]
rs4621033	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629023	0.82[MEX][hapmap]
rs4985695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985703	0.90[AMR][1000 genomes]
rs4985704	0.81[MEX][hapmap]
rs4985712	0.85[ASN][1000 genomes]
rs4985714	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4985715	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4985719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985723	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4985727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985739	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985742	0.88[MEX][hapmap]
rs4985744	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985747	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55751545	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56009207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57812549	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58326998	0.90[AMR][1000 genomes]
rs58472573	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58814183	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59394251	0.90[AMR][1000 genomes]
rs60128647	0.95[AMR][1000 genomes]
rs61018209	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6502564	0.86[YRI][hapmap]
rs7207187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7210339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7223583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7223686	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7223924	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73979053	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73979055	0.96[AFR][1000 genomes]
rs73979058	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73979060	0.95[AMR][1000 genomes]
rs73979061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73979083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064991	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8066111	0.90[AMR][1000 genomes]
rs8067563	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075751	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs9910011	0.85[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	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv960194	chr17:16992376-17000025	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4606773	M-RIP	Cis_1M	lymphoblastoid	RTeQTL
rs4606773	M-RIP	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16952600-16996400	Weak transcription	Fetal Brain Male	brain
2	chr17:16973600-16997600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:16978800-16996800	Strong transcription	Dnd41	blood
4	chr17:16983000-16996400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:16985600-16996800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:16986800-16997600	Weak transcription	NHDF-Ad	bronchial
7	chr17:16986800-17013600	Weak transcription	HUVEC	blood vessel
8	chr17:16988000-16999800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:16988200-17000000	Weak transcription	Fetal Kidney	kidney
10	chr17:16988400-16996400	Genic enhancers	Placenta	Placenta
11	chr17:16988800-17000600	Weak transcription	Aorta	Aorta
12	chr17:16989600-16997400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr17:16989800-16996400	Strong transcription	Primary B cells from cord blood	blood
14	chr17:16990200-16996400	Strong transcription	Osteobl	bone
15	chr17:16990400-16996600	Enhancers	Stomach Mucosa	stomach
16	chr17:16991000-17000200	Weak transcription	GM12878-XiMat	blood
17	chr17:16991400-16996600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:16991600-16996400	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr17:16991600-16996400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:16991600-17000200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr17:16991800-16999000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:16992000-16996800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:16992000-16997400	Enhancers	Small Intestine	intestine
24	chr17:16992200-16999400	Weak transcription	NH-A	brain
25	chr17:16992200-16999600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:16992400-17000200	Weak transcription	Hela-S3	cervix
27	chr17:16992400-17010000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr17:16992600-16996400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:16992600-16996800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr17:16992600-16997200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:16992600-17000000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:16992800-16999800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:16993000-17000600	Strong transcription	Primary T cells from cord blood	blood
34	chr17:16993200-16996600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:16993200-16997000	Weak transcription	K562	blood
36	chr17:16993200-17003800	Genic enhancers	Fetal Intestine Small	intestine
37	chr17:16993400-17000200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:16993400-17011400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr17:16993800-16996800	Weak transcription	Brain Substantia Nigra	brain
40	chr17:16994000-16996400	Strong transcription	Thymus	Thymus
41	chr17:16994200-16996400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr17:16994200-16996600	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr17:16994400-16996600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:16994400-16999600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr17:16994600-16997600	Enhancers	Psoas Muscle	Psoas
46	chr17:16994600-16999200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr17:16994600-17003400	Enhancers	Ovary	ovary
48	chr17:16994600-17011600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr17:16994800-16996400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:16994800-16996600	Enhancers	Right Atrium	heart

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