Variant report

Variant	rs12450213
Chromosome Location	chr17:17016203-17016204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17014229..17016435-chr17:17023401..17025123,2	K562	blood:
2	chr17:17011246..17012827-chr17:17014614..17017458,3	K562	blood:
3	chr17:17006139..17008392-chr17:17014164..17016773,2	K562	blood:
4	chr17:17014931..17017643-chr17:17019821..17021328,2	K562	blood:
5	chr17:17011246..17012755-chr17:17014614..17017121,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1047805	0.88[AMR][1000 genomes]
rs10852843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10852844	0.93[AMR][1000 genomes]
rs10852845	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852846	0.88[AMR][1000 genomes]
rs11078364	0.90[AMR][1000 genomes]
rs11078365	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11078366	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs11078370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078371	0.93[AMR][1000 genomes]
rs11078372	0.93[AMR][1000 genomes]
rs11078373	0.88[AMR][1000 genomes]
rs11078375	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1110504	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1110505	0.88[AMR][1000 genomes]
rs11651460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11651938	0.88[AMR][1000 genomes]
rs11651988	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11652079	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11652674	0.87[EUR][1000 genomes]
rs11652678	0.88[AMR][1000 genomes]
rs11652756	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11652936	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11654247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11654360	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11654562	0.90[CHB][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11658084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11658904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12450109	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12450238	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12450467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12451054	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12452303	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12452802	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12601325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12602124	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12602129	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12602867	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16961288	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16961412	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs1877631	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs2292526	0.84[AMR][1000 genomes]
rs3744125	0.88[AMR][1000 genomes]
rs3744127	0.88[AMR][1000 genomes]
rs3744132	0.88[AMR][1000 genomes]
rs3744133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3744136	0.88[AMR][1000 genomes]
rs3744140	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3826305	0.86[AMR][1000 genomes]
rs4073940	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4074611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4074612	0.93[AMR][1000 genomes]
rs4074819	0.88[AMR][1000 genomes]
rs4264448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4275916	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4283273	0.88[AMR][1000 genomes]
rs4321246	0.84[AMR][1000 genomes]
rs4606773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4621033	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985695	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985697	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985698	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985703	0.88[AMR][1000 genomes]
rs4985712	0.83[ASN][1000 genomes]
rs4985714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4985715	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985723	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4985727	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4985739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4985744	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985747	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55751545	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56009207	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57812549	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58326998	0.88[AMR][1000 genomes]
rs58472573	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58814183	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59394251	0.88[AMR][1000 genomes]
rs60128647	0.93[AMR][1000 genomes]
rs61018209	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7207187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7210339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7217970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7223583	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7223686	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7223924	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73979053	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73979054	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979058	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73979060	0.93[AMR][1000 genomes]
rs73979061	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73979081	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73979082	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73979083	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8064991	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8066111	0.88[AMR][1000 genomes]
rs8067563	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8075751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9910011	0.83[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	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	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
3	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12450213	M-RIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16997000-17016600	Enhancers	Left Ventricle	heart
2	chr17:16998600-17016600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr17:17000200-17018200	Weak transcription	NH-A	brain
4	chr17:17002600-17023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr17:17006800-17016600	Enhancers	Right Ventricle	heart
7	chr17:17007400-17016600	Enhancers	Pancreas	Pancrea
8	chr17:17007600-17016600	Enhancers	Right Atrium	heart
9	chr17:17007800-17021000	Weak transcription	HepG2	liver
10	chr17:17008000-17017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr17:17008400-17016600	Enhancers	Placenta	Placenta
12	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
13	chr17:17009400-17016600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr17:17009400-17020600	Enhancers	Lung	lung
15	chr17:17009800-17017000	Enhancers	Brain Angular Gyrus	brain
16	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr17:17010200-17017200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr17:17010200-17021600	Weak transcription	Dnd41	blood
19	chr17:17010200-17025000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr17:17010200-17025000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:17010400-17024000	Enhancers	Primary B cells from peripheral blood	blood
22	chr17:17010400-17025200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:17010800-17016400	Enhancers	Fetal Muscle Trunk	muscle
24	chr17:17011000-17019200	Enhancers	Primary B cells from cord blood	blood
25	chr17:17011200-17028800	Weak transcription	Fetal Brain Female	brain
26	chr17:17011400-17021600	Weak transcription	Aorta	Aorta
27	chr17:17011600-17017000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr17:17011800-17017800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:17011800-17018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr17:17012200-17018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:17012400-17018000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr17:17012400-17018000	Weak transcription	Brain Germinal Matrix	brain
34	chr17:17012600-17016400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:17012600-17023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:17012800-17017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:17013200-17017800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:17013600-17016400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:17013600-17017800	Weak transcription	Liver	Liver
40	chr17:17013600-17018600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr17:17014000-17017800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:17014000-17017800	Weak transcription	Small Intestine	intestine
43	chr17:17014000-17018000	Weak transcription	Fetal Thymus	thymus
44	chr17:17014000-17018400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:17014000-17022200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr17:17014200-17016400	Weak transcription	Brain Substantia Nigra	brain
47	chr17:17014200-17017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:17014200-17017600	Weak transcription	Fetal Kidney	kidney
49	chr17:17014200-17017800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr17:17014200-17017800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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