Variant report

Variant	rs1693508
Chromosome Location	chr15:52816342-52816343
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52814093..52816387-chr15:52859030..52861250,2	K562	blood:
2	chr15:52815685..52818826-chr15:52821088..52823624,4	K562	blood:
3	chr15:52812726..52818760-chr15:52818912..52822448,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128989	Chromatin interaction
ENSG00000197535	Chromatin interaction

Extended variants
information (count: 178 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs1001407	0.81[EUR][1000 genomes]
rs10518689	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs10518691	0.86[CEU][hapmap]
rs1058219	0.81[CEU][hapmap];0.89[GIH][hapmap]
rs11070898	0.83[EUR][1000 genomes]
rs11070899	0.83[EUR][1000 genomes]
rs11070900	0.83[EUR][1000 genomes]
rs11631183	0.81[EUR][1000 genomes]
rs11852250	0.82[EUR][1000 genomes]
rs11852556	0.83[EUR][1000 genomes]
rs11852880	0.82[EUR][1000 genomes]
rs11853078	0.82[EUR][1000 genomes]
rs11853114	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs11853337	0.86[CEU][hapmap]
rs11853544	0.81[EUR][1000 genomes]
rs11853586	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs11854130	0.86[CEU][hapmap]
rs11854247	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs11854405	0.83[EUR][1000 genomes]
rs11854480	0.82[EUR][1000 genomes]
rs11854642	0.82[EUR][1000 genomes]
rs11854673	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs11854780	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs11855082	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[EUR][1000 genomes]
rs11855352	0.83[EUR][1000 genomes]
rs11855438	0.83[EUR][1000 genomes]
rs11855453	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs11855467	0.83[EUR][1000 genomes]
rs11855584	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs11855673	0.83[EUR][1000 genomes]
rs11855692	0.82[EUR][1000 genomes]
rs11855820	0.86[CEU][hapmap]
rs11855884	0.86[CEU][hapmap];0.92[GIH][hapmap]
rs11856494	0.82[EUR][1000 genomes]
rs11856542	0.82[EUR][1000 genomes]
rs11856588	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs11856626	0.83[EUR][1000 genomes]
rs11856662	0.86[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs11856752	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs11856810	0.86[CEU][hapmap]
rs11856896	0.92[CEU][hapmap]
rs11856912	0.82[EUR][1000 genomes]
rs11856989	0.82[EUR][1000 genomes]
rs11857854	0.82[EUR][1000 genomes]
rs11857914	0.82[EUR][1000 genomes]
rs11857993	0.86[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs11858031	0.86[CEU][hapmap]
rs1464965	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs1464966	0.86[CEU][hapmap]
rs1474437	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs1474438	0.86[CEU][hapmap]
rs1622405	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1693492	0.86[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs1693494	0.86[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs1693497	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1693501	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1693502	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1693505	0.82[EUR][1000 genomes]
rs1693506	0.86[CEU][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes]
rs1693507	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1693510	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1724595	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.82[MKK][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1724601	0.80[MEX][hapmap]
rs1724603	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1724606	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1724608	1.00[CEU][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1724616	0.82[EUR][1000 genomes]
rs1724637	0.80[EUR][1000 genomes]
rs1724638	0.86[CEU][hapmap]
rs17613951	0.92[CEU][hapmap]
rs17651545	0.82[EUR][1000 genomes]
rs17651581	0.83[EUR][1000 genomes]
rs17651611	0.86[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs17651623	0.83[EUR][1000 genomes]
rs17651631	0.92[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs17651692	0.83[EUR][1000 genomes]
rs17707912	0.82[EUR][1000 genomes]
rs17707941	0.82[EUR][1000 genomes]
rs17707984	0.82[EUR][1000 genomes]
rs17707996	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1815175	0.83[EUR][1000 genomes]
rs1869126	0.86[CEU][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap]
rs1869127	0.86[CEU][hapmap];0.92[GIH][hapmap]
rs1869128	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap]
rs2140962	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs2177876	0.92[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs2246134	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2257152	0.86[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2272283	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs2414148	0.81[CEU][hapmap];0.89[GIH][hapmap]
rs2414155	0.82[EUR][1000 genomes]
rs2693462	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.84[MKK][hapmap];0.82[EUR][1000 genomes]
rs2693465	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2693466	0.82[EUR][1000 genomes]
rs28422901	0.83[EUR][1000 genomes]
rs28519556	0.83[EUR][1000 genomes]
rs2899488	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs2899489	0.82[EUR][1000 genomes]
rs34003115	0.82[AMR][1000 genomes]
rs34099958	0.83[EUR][1000 genomes]
rs34113113	0.82[EUR][1000 genomes]
rs3764227	0.83[EUR][1000 genomes]
rs3816449	0.81[CEU][hapmap];0.89[GIH][hapmap]
rs41408650	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs4528515	0.83[EUR][1000 genomes]
rs4547284	0.83[EUR][1000 genomes]
rs4774624	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs4774625	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs4774626	0.83[EUR][1000 genomes]
rs4774627	0.81[CEU][hapmap];0.92[GIH][hapmap];0.83[EUR][1000 genomes]
rs4776045	0.86[CEU][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap]
rs4776048	0.82[EUR][1000 genomes]
rs4776049	0.82[EUR][1000 genomes]
rs4776050	0.82[EUR][1000 genomes]
rs4776051	0.86[CEU][hapmap];0.92[GIH][hapmap];0.83[EUR][1000 genomes]
rs4776053	0.86[CEU][hapmap];0.96[GIH][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4776054	0.83[EUR][1000 genomes]
rs55663209	0.83[EUR][1000 genomes]
rs55710656	0.83[EUR][1000 genomes]
rs55774735	0.82[EUR][1000 genomes]
rs55789576	0.82[EUR][1000 genomes]
rs55842353	0.83[EUR][1000 genomes]
rs55854724	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55876643	0.82[EUR][1000 genomes]
rs55914546	0.83[EUR][1000 genomes]
rs55946989	0.83[EUR][1000 genomes]
rs56017964	0.83[EUR][1000 genomes]
rs56043792	0.83[EUR][1000 genomes]
rs56066720	0.82[EUR][1000 genomes]
rs56124629	0.83[EUR][1000 genomes]
rs56147218	0.82[EUR][1000 genomes]
rs56205481	0.82[EUR][1000 genomes]
rs56206042	0.82[EUR][1000 genomes]
rs56271524	0.82[EUR][1000 genomes]
rs56279946	0.81[EUR][1000 genomes]
rs56317843	0.82[EUR][1000 genomes]
rs56849428	0.83[EUR][1000 genomes]
rs57364199	0.82[EUR][1000 genomes]
rs57997370	0.80[EUR][1000 genomes]
rs58388195	0.83[EUR][1000 genomes]
rs59477983	0.81[EUR][1000 genomes]
rs60607997	0.83[EUR][1000 genomes]
rs61494501	0.83[EUR][1000 genomes]
rs61617647	0.82[EUR][1000 genomes]
rs6493563	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs66461265	0.83[EUR][1000 genomes]
rs66755651	0.83[EUR][1000 genomes]
rs66870412	0.82[EUR][1000 genomes]
rs66920283	0.82[EUR][1000 genomes]
rs67028104	0.82[EUR][1000 genomes]
rs67287941	0.83[EUR][1000 genomes]
rs67423475	0.83[EUR][1000 genomes]
rs67560989	0.82[EUR][1000 genomes]
rs67632670	0.82[EUR][1000 genomes]
rs67732354	0.82[EUR][1000 genomes]
rs67827251	0.83[EUR][1000 genomes]
rs68061874	0.82[EUR][1000 genomes]
rs72623984	0.82[EUR][1000 genomes]
rs72623985	0.82[EUR][1000 genomes]
rs72623986	0.83[EUR][1000 genomes]
rs72623987	0.83[EUR][1000 genomes]
rs72623988	0.82[EUR][1000 genomes]
rs72738514	0.81[EUR][1000 genomes]
rs72738516	0.82[EUR][1000 genomes]
rs7402901	0.81[EUR][1000 genomes]
rs8027927	0.80[EUR][1000 genomes]
rs8030731	0.82[EUR][1000 genomes]
rs940966	0.81[CEU][hapmap]
rs940968	0.83[EUR][1000 genomes]
rs940971	0.86[CEU][hapmap];0.92[GIH][hapmap]
rs940972	0.86[CEU][hapmap];0.92[GIH][hapmap]
rs940973	0.86[CEU][hapmap];0.92[GIH][hapmap]
rs9788691	0.85[CEU][hapmap];0.92[GIH][hapmap];0.83[EUR][1000 genomes]
rs9788777	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv4732	chr15:52816238-52816990	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1693508	MYO5A	cis	lymphoblastoid	seeQTL
rs1693508	ARPP19	cis	lymphoblastoid	seeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52796800-52819400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52796800-52820000	Weak transcription	Primary T cells from cord blood	blood
3	chr15:52797600-52819800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr15:52807400-52820200	Weak transcription	Lung	lung
5	chr15:52807800-52816800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:52807800-52819800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr15:52811400-52816400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:52811600-52817400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:52811600-52817600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:52811600-52819400	Weak transcription	Primary B cells from cord blood	blood
11	chr15:52812400-52819600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr15:52812600-52820200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:52812800-52816600	Weak transcription	Psoas Muscle	Psoas
14	chr15:52812800-52819800	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:52812800-52819800	Weak transcription	HSMMtube	muscle
16	chr15:52812800-52820200	Weak transcription	Left Ventricle	heart
17	chr15:52812800-52820200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:52812800-52820200	Weak transcription	Small Intestine	intestine
19	chr15:52813000-52819400	Weak transcription	Fetal Heart	heart
20	chr15:52813000-52819600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:52813000-52819600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:52813600-52817000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:52813800-52816400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:52813800-52819600	Weak transcription	GM12878-XiMat	blood
25	chr15:52813800-52819800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:52814000-52818400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:52814200-52817600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:52814200-52818200	Enhancers	HMEC	breast
29	chr15:52814400-52819600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:52814800-52816400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr15:52814800-52816400	Enhancers	NHDF-Ad	bronchial
32	chr15:52814800-52816600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:52814800-52816600	Enhancers	Brain Anterior Caudate	brain
34	chr15:52814800-52817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:52814800-52819400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr15:52815000-52816400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:52815000-52816400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr15:52815200-52816400	Enhancers	NHLF	lung
39	chr15:52815200-52816800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:52815400-52816400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr15:52815600-52820000	Weak transcription	Right Atrium	heart
42	chr15:52815800-52816800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:52815800-52818000	Weak transcription	Brain Angular Gyrus	brain
44	chr15:52815800-52820000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr15:52816000-52816400	Enhancers	Fetal Brain Female	brain
46	chr15:52816000-52817400	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:52816000-52818200	Enhancers	NHEK	skin
48	chr15:52816000-52819800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:52816000-52819800	Weak transcription	Brain Substantia Nigra	brain
50	chr15:52816000-52820000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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