Variant report

Variant	rs10518684
Chromosome Location	chr15:52658372-52658373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52656876..52658459-chr15:52661016..52663662,2	MCF-7	breast:
2	chr15:52653880..52655772-chr15:52658306..52660812,2	K562	blood:
3	chr15:52636739..52638418-chr15:52656759..52658437,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1045700	0.82[JPT][hapmap]
rs10518689	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10518691	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10518692	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1058219	0.93[CHB][hapmap];0.93[CHD][hapmap];0.82[JPT][hapmap];0.92[ASN][1000 genomes]
rs11853114	1.00[CHB][hapmap]
rs11853179	0.93[CHB][hapmap]
rs11853337	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11853586	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11854130	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11854247	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs11854673	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs11854780	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11854886	0.83[ASN][1000 genomes]
rs11855082	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs11855257	0.80[CHB][hapmap]
rs11855453	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11855584	1.00[CHB][hapmap]
rs11855820	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11855884	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs11856588	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11856662	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11856752	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11856810	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11856896	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11857993	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11858031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12050602	0.83[ASN][1000 genomes]
rs12050717	0.88[ASN][1000 genomes]
rs1464965	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1464966	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1474437	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1474438	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1693492	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1693494	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1693497	1.00[CHB][hapmap]
rs1693501	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1693502	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1693506	0.93[CHB][hapmap]
rs1693507	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1724595	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs1724601	0.93[CHB][hapmap];0.82[CHD][hapmap]
rs1724603	1.00[CHB][hapmap]
rs1724608	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs1724638	1.00[CHB][hapmap]
rs17541809	0.99[ASN][1000 genomes]
rs17613587	0.95[ASN][1000 genomes]
rs17613607	0.98[ASN][1000 genomes]
rs17613951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17651326	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17651611	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17651631	0.93[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs17707338	0.98[ASN][1000 genomes]
rs17707996	1.00[CHB][hapmap]
rs17708103	0.93[CHB][hapmap];0.90[JPT][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap]
rs1869126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1869127	1.00[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap]
rs1869128	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2140962	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2177876	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2257152	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2272283	1.00[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap]
rs2290334	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2414148	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2414152	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2693462	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2899488	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs3751619	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3751620	0.86[CHB][hapmap]
rs3794568	1.00[ASN][1000 genomes]
rs3816449	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs41408650	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs4341694	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4774624	1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs4774625	1.00[CHB][hapmap]
rs4774627	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4776044	0.84[ASN][1000 genomes]
rs4776045	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4776051	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs4776053	0.93[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs55978431	1.00[ASN][1000 genomes]
rs56136255	0.81[ASN][1000 genomes]
rs56312354	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56992654	0.83[ASN][1000 genomes]
rs59584964	0.82[ASN][1000 genomes]
rs61363656	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs66526357	0.86[AMR][1000 genomes]
rs67438240	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67992061	0.80[AMR][1000 genomes]
rs68155341	1.00[ASN][1000 genomes]
rs72736633	0.87[EUR][1000 genomes]
rs940966	1.00[CHB][hapmap]
rs940971	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs940972	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs940973	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs9788691	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10518684	MYO5A	cis	multi-tissue	Pritchard
rs10518684	MYO5A	cis	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52609800-52677600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:52611800-52675800	Weak transcription	Gastric	stomach
3	chr15:52613600-52666600	Weak transcription	Right Ventricle	heart
4	chr15:52620600-52659200	Weak transcription	Fetal Lung	lung
5	chr15:52621200-52666600	Weak transcription	Fetal Brain Male	brain
6	chr15:52621800-52662200	Weak transcription	Psoas Muscle	Psoas
7	chr15:52630600-52684800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:52631600-52679200	Weak transcription	Fetal Intestine Small	intestine
9	chr15:52632600-52670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:52632800-52662200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr15:52633600-52662200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:52638000-52671600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:52640600-52666600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:52641800-52666800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:52644000-52664200	Weak transcription	NHLF	lung
16	chr15:52644000-52666600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:52644200-52661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:52644200-52680800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr15:52644600-52660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:52644600-52661200	Weak transcription	Thymus	Thymus
21	chr15:52644600-52661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr15:52644600-52662000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:52644600-52662200	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:52644600-52662400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:52644600-52662400	Weak transcription	Fetal Stomach	stomach
26	chr15:52644600-52663800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:52644600-52663800	Weak transcription	Spleen	Spleen
28	chr15:52644600-52665400	Weak transcription	A549	lung
29	chr15:52644600-52730200	Weak transcription	Esophagus	oesophagus
30	chr15:52645600-52661200	Weak transcription	NH-A	brain
31	chr15:52645800-52661000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:52645800-52661000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:52646000-52660400	Weak transcription	Placenta	Placenta
34	chr15:52646000-52661600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:52646200-52660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:52646200-52661600	Weak transcription	Left Ventricle	heart
37	chr15:52646200-52663800	Weak transcription	Lung	lung
38	chr15:52646400-52659200	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:52647400-52690600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:52649000-52687200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:52649600-52670600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:52649600-52677600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:52649800-52662800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:52649800-52676400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:52650000-52670200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:52650000-52670400	Strong transcription	HUVEC	blood vessel
47	chr15:52650200-52669200	Strong transcription	Primary B cells from cord blood	blood
48	chr15:52650400-52666800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:52650800-52661400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr15:52651000-52661400	Weak transcription	NHEK	skin

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