Variant report

Variant	rs8030535
Chromosome Location	chr15:52705694-52705695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12438578	0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap]
rs12440929	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12441597	0.81[ASN][1000 genomes]
rs12442531	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12901814	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1405183	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1405184	0.95[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1526169	0.86[MEX][hapmap]
rs1581580	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1615235	0.82[MEX][hapmap]
rs1669866	0.80[AMR][1000 genomes]
rs1669877	0.86[MEX][hapmap]
rs17707852	0.81[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1965563	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1972160	0.86[MEX][hapmap]
rs2290332	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap]
rs2290335	0.82[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs2290336	0.82[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs2444015	0.80[AMR][1000 genomes]
rs2462847	0.84[ASW][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes]
rs28533733	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794557	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3794564	0.82[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3794565	0.82[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap]
rs3794566	0.82[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs7176600	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7176830	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8025937	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs8032995	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8033579	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8041275	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs871488	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940970	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[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];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846455	chr15:52501831-52714452	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1054899	chr15:52662365-52803756	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1832020	chr15:52702400-52901914	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8030535	CEP152	cis	cerebellum	SCAN
rs8030535	MYO5A	cis	lymphoblastoid	seeQTL
rs8030535	MYO5A	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52644600-52730200	Weak transcription	Esophagus	oesophagus
2	chr15:52663200-52711400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:52663400-52708600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr15:52665200-52720600	Weak transcription	Pancreas	Pancrea
5	chr15:52668800-52730400	Weak transcription	Aorta	Aorta
6	chr15:52673800-52730200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:52676400-52709800	Weak transcription	NHLF	lung
8	chr15:52676400-52721400	Weak transcription	Gastric	stomach
9	chr15:52676600-52706400	Weak transcription	Lung	lung
10	chr15:52676600-52718600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:52677000-52730000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:52679800-52729600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:52679800-52740000	Weak transcription	Spleen	Spleen
14	chr15:52680600-52719800	Weak transcription	NH-A	brain
15	chr15:52680800-52716400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:52680800-52730000	Weak transcription	Brain Angular Gyrus	brain
17	chr15:52680800-52740200	Weak transcription	Thymus	Thymus
18	chr15:52681000-52706800	Weak transcription	Brain Substantia Nigra	brain
19	chr15:52684000-52719800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:52684800-52719800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:52684800-52730000	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:52685000-52717000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:52685400-52706200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr15:52685400-52711000	Weak transcription	NHDF-Ad	bronchial
25	chr15:52685400-52730000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:52685600-52708000	Weak transcription	NHEK	skin
27	chr15:52687000-52714800	Weak transcription	Psoas Muscle	Psoas
28	chr15:52687000-52715000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:52687200-52706200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:52689600-52707400	Weak transcription	Fetal Heart	heart
31	chr15:52689600-52730200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:52689600-52730200	Weak transcription	Left Ventricle	heart
33	chr15:52689600-52730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:52689800-52706800	Weak transcription	HSMMtube	muscle
35	chr15:52696000-52730200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:52696200-52719800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:52697000-52709800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:52697200-52715000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:52697200-52718400	Weak transcription	Dnd41	blood
40	chr15:52697200-52720000	Weak transcription	Ovary	ovary
41	chr15:52697200-52730000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:52697200-52730400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr15:52697200-52738600	Weak transcription	Fetal Brain Female	brain
44	chr15:52697400-52720000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:52697400-52730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:52697600-52708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:52697600-52708400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:52697600-52709400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr15:52697600-52710200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:52697600-52720600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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