Variant report

Variant	rs8075751
Chromosome Location	chr17:16941236-16941237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10852843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10852845	0.83[ASN][1000 genomes]
rs11078364	0.95[ASN][1000 genomes]
rs11078365	1.00[ASN][1000 genomes]
rs11078366	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.80[TSI][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11078371	0.88[MEX][hapmap]
rs11078373	0.88[MEX][hapmap]
rs11078375	1.00[CHB][hapmap]
rs11651460	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]
rs11651988	0.92[ASN][1000 genomes]
rs11652756	0.88[ASN][1000 genomes]
rs11652936	0.85[ASN][1000 genomes]
rs11654247	1.00[CHB][hapmap]
rs11654360	0.92[ASN][1000 genomes]
rs11654562	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs11658084	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.92[ASN][1000 genomes]
rs11658904	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs12450109	0.88[ASN][1000 genomes]
rs12450213	0.83[ASN][1000 genomes]
rs12450238	1.00[ASN][1000 genomes]
rs12450467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12451054	0.85[ASN][1000 genomes]
rs12452303	0.88[ASN][1000 genomes]
rs12601325	1.00[CHB][hapmap]
rs12602124	0.92[ASN][1000 genomes]
rs12602129	0.92[ASN][1000 genomes]
rs16961288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16961412	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]
rs1877631	0.93[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[MEX][hapmap];0.80[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes]
rs3744132	0.88[MEX][hapmap]
rs3744133	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]
rs3744140	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]
rs4073940	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4074611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4264448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4275916	0.85[ASN][1000 genomes]
rs4589617	0.82[EUR][1000 genomes]
rs4606773	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[ASN][1000 genomes]
rs4621033	0.85[ASN][1000 genomes]
rs4641803	0.80[EUR][1000 genomes]
rs4985695	0.85[ASN][1000 genomes]
rs4985697	0.85[ASN][1000 genomes]
rs4985698	0.83[ASN][1000 genomes]
rs4985712	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985714	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs4985715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4985719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4985723	0.84[ASN][1000 genomes]
rs4985727	0.85[ASN][1000 genomes]
rs4985739	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]
rs56009207	0.92[ASN][1000 genomes]
rs58472573	0.85[ASN][1000 genomes]
rs58814183	0.94[ASN][1000 genomes]
rs7207187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7210339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7217970	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MEX][hapmap]
rs7223583	0.92[ASN][1000 genomes]
rs7223686	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7223924	0.92[ASN][1000 genomes]
rs73979053	1.00[ASN][1000 genomes]
rs73979054	0.97[ASN][1000 genomes]
rs73979058	0.94[ASN][1000 genomes]
rs73979061	0.85[ASN][1000 genomes]
rs73979081	0.85[ASN][1000 genomes]
rs73979082	0.85[ASN][1000 genomes]
rs73979083	0.85[ASN][1000 genomes]
rs8067563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs8073851	0.93[CEU][hapmap]
rs8076273	0.82[CEU][hapmap];0.92[EUR][1000 genomes]
rs9910011	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8075751	TOM1L2	cis	cerebellum	SCAN
rs8075751	MPRIP	cis	lymphoblastoid	seeQTL
rs8075751	M-RIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16932800-16944200	Weak transcription	Fetal Brain Female	brain
2	chr17:16934600-16944600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:16935600-16944400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:16935800-16945200	Weak transcription	Aorta	Aorta
5	chr17:16936000-16942000	Weak transcription	Fetal Intestine Large	intestine
6	chr17:16936000-16943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:16936000-16943400	Weak transcription	Fetal Brain Male	brain
8	chr17:16936000-16944200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr17:16936000-16944400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:16936000-16944400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:16936000-16944400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr17:16936000-16944400	Weak transcription	Colonic Mucosa	Colon
13	chr17:16936000-16944400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:16936000-16944400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:16936000-16944400	Enhancers	A549	lung
16	chr17:16936000-16944400	Weak transcription	NHEK	skin
17	chr17:16936000-16944600	Weak transcription	Gastric	stomach
18	chr17:16936000-16944600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr17:16936000-16944800	Weak transcription	Brain Angular Gyrus	brain
20	chr17:16936000-16944800	Weak transcription	Esophagus	oesophagus
21	chr17:16936200-16942000	Weak transcription	Fetal Intestine Small	intestine
22	chr17:16936200-16943200	Weak transcription	Brain Anterior Caudate	brain
23	chr17:16936200-16944200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:16936200-16944400	Weak transcription	Brain Substantia Nigra	brain
25	chr17:16936200-16944400	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:16936200-16944400	Weak transcription	Stomach Mucosa	stomach
27	chr17:16936200-16944800	Weak transcription	HUVEC	blood vessel
28	chr17:16936800-16941400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr17:16937400-16944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:16937600-16941800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr17:16938800-16942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:16939200-16941600	Weak transcription	HepG2	liver
33	chr17:16939200-16944600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:16939600-16944400	Weak transcription	K562	blood
35	chr17:16940000-16941400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:16940200-16942200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:16940400-16942200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr17:16940400-16943000	Weak transcription	HSMMtube	muscle
39	chr17:16940400-16943200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:16940400-16944200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr17:16940400-16944400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:16940400-16944400	Weak transcription	Brain Hippocampus Middle	brain
43	chr17:16940400-16944400	Weak transcription	Fetal Heart	heart
44	chr17:16940400-16944400	Weak transcription	Fetal Thymus	thymus
45	chr17:16940400-16944400	Weak transcription	Right Ventricle	heart
46	chr17:16940400-16944600	Weak transcription	Left Ventricle	heart
47	chr17:16940400-16944600	Weak transcription	NH-A	brain
48	chr17:16940400-16944800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr17:16940400-16944800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:16940400-16944800	Weak transcription	Right Atrium	heart

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