Variant report

Variant	rs11870483
Chromosome Location	chr17:17016012-17016013
allele	A/G
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: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1047799	0.80[ASN][1000 genomes]
rs1047805	0.80[ASN][1000 genomes]
rs10852844	0.97[ASN][1000 genomes]
rs10852846	0.86[ASN][1000 genomes]
rs11078368	0.96[ASN][1000 genomes]
rs11078371	0.96[ASN][1000 genomes]
rs11078372	0.97[ASN][1000 genomes]
rs11078373	0.88[ASN][1000 genomes]
rs1110505	0.83[ASN][1000 genomes]
rs11551189	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11651938	0.88[ASN][1000 genomes]
rs11652678	0.88[ASN][1000 genomes]
rs11654887	0.86[ASN][1000 genomes]
rs11657189	0.80[ASN][1000 genomes]
rs11870035	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11870422	0.86[EUR][1000 genomes]
rs11870997	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12451343	0.94[ASN][1000 genomes]
rs12602583	0.80[ASN][1000 genomes]
rs12602592	0.80[ASN][1000 genomes]
rs12602839	0.96[ASN][1000 genomes]
rs12603417	0.96[ASN][1000 genomes]
rs1567815	0.83[ASN][1000 genomes]
rs17794784	0.86[ASN][1000 genomes]
rs2292526	0.88[ASN][1000 genomes]
rs2292530	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2349645	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2349648	1.00[ASN][1000 genomes]
rs28452405	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34001712	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34976658	0.83[ASN][1000 genomes]
rs35650871	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3744125	0.80[ASN][1000 genomes]
rs3744127	0.80[ASN][1000 genomes]
rs3744131	0.89[ASN][1000 genomes]
rs3744132	0.86[ASN][1000 genomes]
rs3744134	0.86[ASN][1000 genomes]
rs3744136	0.88[ASN][1000 genomes]
rs3744137	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744138	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744139	0.90[ASN][1000 genomes]
rs4073688	0.92[ASN][1000 genomes]
rs4074612	0.96[ASN][1000 genomes]
rs4074819	0.88[ASN][1000 genomes]
rs4283273	0.80[ASN][1000 genomes]
rs4321246	0.88[ASN][1000 genomes]
rs4468683	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4629023	0.96[ASN][1000 genomes]
rs4641803	0.80[ASN][1000 genomes]
rs4985703	0.88[ASN][1000 genomes]
rs4985704	0.86[ASN][1000 genomes]
rs4985716	0.92[ASN][1000 genomes]
rs4985721	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4985728	0.96[ASN][1000 genomes]
rs4985730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985737	0.88[ASN][1000 genomes]
rs4985741	0.83[ASN][1000 genomes]
rs4985742	0.80[ASN][1000 genomes]
rs4985745	0.83[ASN][1000 genomes]
rs56133536	0.90[ASN][1000 genomes]
rs57729820	0.92[ASN][1000 genomes]
rs58326998	0.86[ASN][1000 genomes]
rs59320277	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59394251	0.86[ASN][1000 genomes]
rs60128647	0.96[ASN][1000 genomes]
rs61242604	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7211576	0.83[ASN][1000 genomes]
rs7212275	0.91[ASN][1000 genomes]
rs7214429	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7216677	0.88[ASN][1000 genomes]
rs73979060	0.96[ASN][1000 genomes]
rs73979078	0.96[ASN][1000 genomes]
rs8066111	0.85[ASN][1000 genomes]
rs8066234	0.83[ASN][1000 genomes]
rs8069259	0.87[ASN][1000 genomes]
rs8071254	0.92[ASN][1000 genomes]
rs8076273	0.81[ASN][1000 genomes]
rs8077360	0.88[ASN][1000 genomes]
rs9892695	0.81[ASN][1000 genomes]
rs9893676	0.89[ASN][1000 genomes]
rs9897510	0.89[ASN][1000 genomes]
rs9906028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9907109	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9910857	0.90[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
rs11870483	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	chr17:16998200-17016200	Enhancers	Fetal Heart	heart
3	chr17:16998600-17016600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr17:17000200-17018200	Weak transcription	NH-A	brain
5	chr17:17002600-17023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:17006200-17033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr17:17006800-17016600	Enhancers	Right Ventricle	heart
8	chr17:17007400-17016600	Enhancers	Pancreas	Pancrea
9	chr17:17007600-17016600	Enhancers	Right Atrium	heart
10	chr17:17007800-17021000	Weak transcription	HepG2	liver
11	chr17:17008000-17017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr17:17008400-17016600	Enhancers	Placenta	Placenta
13	chr17:17009200-17025200	Enhancers	Brain Anterior Caudate	brain
14	chr17:17009400-17016200	Genic enhancers	A549	lung
15	chr17:17009400-17016600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr17:17009400-17020600	Enhancers	Lung	lung
17	chr17:17009800-17017000	Enhancers	Brain Angular Gyrus	brain
18	chr17:17010000-17032000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:17010200-17016200	Enhancers	Gastric	stomach
20	chr17:17010200-17017200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr17:17010200-17021600	Weak transcription	Dnd41	blood
22	chr17:17010200-17025000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr17:17010200-17025000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:17010400-17024000	Enhancers	Primary B cells from peripheral blood	blood
25	chr17:17010400-17025200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:17010800-17016400	Enhancers	Fetal Muscle Trunk	muscle
27	chr17:17011000-17019200	Enhancers	Primary B cells from cord blood	blood
28	chr17:17011200-17028800	Weak transcription	Fetal Brain Female	brain
29	chr17:17011400-17021600	Weak transcription	Aorta	Aorta
30	chr17:17011600-17017000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr17:17011800-17017800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr17:17011800-17018400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:17012000-17035200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr17:17012200-17018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:17012400-17016200	Weak transcription	GM12878-XiMat	blood
36	chr17:17012400-17018000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:17012400-17018000	Weak transcription	Brain Germinal Matrix	brain
38	chr17:17012600-17016200	Enhancers	Stomach Smooth Muscle	stomach
39	chr17:17012600-17016400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:17012600-17023600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:17012800-17017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:17013200-17017800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:17013600-17016200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:17013600-17016400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:17013600-17017800	Weak transcription	Liver	Liver
46	chr17:17013600-17018600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr17:17014000-17017800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:17014000-17017800	Weak transcription	Small Intestine	intestine
49	chr17:17014000-17018000	Weak transcription	Fetal Thymus	thymus
50	chr17:17014000-17018400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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