Variant report

Variant	rs8028532
Chromosome Location	chr15:72348054-72348055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1037680	0.81[EUR][1000 genomes]
rs10518979	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1074330	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072338	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072339	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072346	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11852789	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11853101	0.84[EUR][1000 genomes]
rs11853268	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11858015	0.84[EUR][1000 genomes]
rs12050895	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12439900	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591313	0.82[EUR][1000 genomes]
rs12591338	0.82[EUR][1000 genomes]
rs12591426	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592044	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12592364	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593134	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593908	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595228	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595464	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899485	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12901580	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12901886	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12902006	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12902661	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12903484	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12903980	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12906711	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12908300	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12908882	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12911154	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12913042	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12914070	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12916694	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12916951	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12917428	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1384007	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1481860	0.83[EUR][1000 genomes]
rs1481861	0.82[EUR][1000 genomes]
rs16953769	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16956241	0.80[AMR][1000 genomes]
rs16956302	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16956328	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16956381	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16956444	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956452	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16956634	0.84[EUR][1000 genomes]
rs2035379	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054601	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2200056	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2279283	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2306488	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306490	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415130	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2607090	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2625530	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2742323	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2856929	0.81[EUR][1000 genomes]
rs2899773	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2929528	0.82[EUR][1000 genomes]
rs2957368	0.84[EUR][1000 genomes]
rs2957373	0.83[EUR][1000 genomes]
rs2957725	0.83[EUR][1000 genomes]
rs2957737	0.83[EUR][1000 genomes]
rs34085279	0.85[ASN][1000 genomes]
rs34137768	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34189331	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34487006	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34514871	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35021156	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35112434	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35115747	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35167572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35186252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35206011	0.84[EUR][1000 genomes]
rs35258998	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35673773	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35713471	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743224	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3803471	0.82[EUR][1000 genomes]
rs4131630	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238447	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4238449	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4411469	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4445848	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4776579	0.83[EUR][1000 genomes]
rs4776581	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4776584	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4776586	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777464	0.83[EUR][1000 genomes]
rs4777467	0.81[EUR][1000 genomes]
rs4777469	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4777471	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4777474	0.89[ASN][1000 genomes]
rs4777477	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4777478	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4777480	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4777484	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4777485	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4777489	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55854204	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60921026	0.87[ASN][1000 genomes]
rs62023342	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62025574	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6494990	0.83[EUR][1000 genomes]
rs71395051	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7170461	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7170754	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7172309	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7182776	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7183749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72733369	0.82[EUR][1000 genomes]
rs8025504	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8032038	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8182011	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8192364	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8192386	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8192431	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs972028	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs972029	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
6	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8028532	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72282800-72349800	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:72300000-72351000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:72301000-72361200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:72302200-72349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:72328400-72349800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:72330000-72349800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:72330000-72349800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:72333200-72353800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr15:72334000-72355000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:72334400-72350000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:72337000-72349800	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:72338800-72349800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:72338800-72349800	Weak transcription	Adipose Nuclei	Adipose
14	chr15:72338800-72349800	Weak transcription	Liver	Liver
15	chr15:72338800-72349800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:72338800-72349800	Weak transcription	Small Intestine	intestine
17	chr15:72338800-72349800	Weak transcription	A549	lung
18	chr15:72338800-72349800	Weak transcription	HSMM	muscle
19	chr15:72338800-72350000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:72338800-72350200	Weak transcription	Primary T cells from cord blood	blood
21	chr15:72338800-72352800	Weak transcription	Left Ventricle	heart
22	chr15:72338800-72353000	Weak transcription	Placenta	Placenta
23	chr15:72339000-72352800	Weak transcription	Ovary	ovary
24	chr15:72339000-72353000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:72339000-72353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:72339000-72363400	Weak transcription	Primary B cells from cord blood	blood
27	chr15:72339800-72350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:72339800-72350000	Weak transcription	NH-A	brain
29	chr15:72340000-72349800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:72342000-72349800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:72342000-72349800	Weak transcription	Fetal Kidney	kidney
32	chr15:72342000-72352800	Weak transcription	Right Atrium	heart
33	chr15:72342200-72349800	Weak transcription	Brain Substantia Nigra	brain
34	chr15:72342200-72350200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:72342400-72350000	Weak transcription	Psoas Muscle	Psoas
36	chr15:72342400-72350200	Weak transcription	Fetal Lung	lung
37	chr15:72342600-72349800	Weak transcription	Brain Anterior Caudate	brain
38	chr15:72342800-72352800	Weak transcription	Thymus	Thymus
39	chr15:72343200-72350000	Weak transcription	NHDF-Ad	bronchial
40	chr15:72343400-72349800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:72343600-72349800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:72343600-72349800	Weak transcription	Osteobl	bone
43	chr15:72343800-72350000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:72343800-72353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr15:72344000-72355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:72344200-72350000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:72344400-72353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:72344400-72353600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr15:72344800-72353200	Weak transcription	Lung	lung
50	chr15:72345000-72350000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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