Variant report

Variant	rs16956381
Chromosome Location	chr15:72193237-72193238
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10518979	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1074330	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072338	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072339	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072346	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11852789	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11853268	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12050895	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12439900	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12591426	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12592044	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12592364	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593134	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593908	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12595228	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595464	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12899485	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12901580	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12901886	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12902006	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12903484	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12903980	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12906711	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12908300	0.88[EUR][1000 genomes]
rs12908882	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12911154	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12913042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12914070	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12916694	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12916951	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12917428	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1384007	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481860	0.81[EUR][1000 genomes]
rs1481861	0.81[EUR][1000 genomes]
rs16956241	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16956302	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16956328	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16956444	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16956452	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035379	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054601	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2200056	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2246225	0.82[ASN][1000 genomes]
rs2279283	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2306488	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2306490	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415130	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2625530	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2723342	0.82[EUR][1000 genomes]
rs2723343	0.81[EUR][1000 genomes]
rs2723356	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2742323	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2899773	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2929528	0.80[EUR][1000 genomes]
rs2957725	0.81[EUR][1000 genomes]
rs2957737	0.81[EUR][1000 genomes]
rs34085279	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34137768	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34189331	0.81[EUR][1000 genomes]
rs34514871	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35021156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35112434	0.85[ASN][1000 genomes]
rs35115747	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35167572	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35186252	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35258998	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35673773	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4131630	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4238447	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4238449	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4411469	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4445848	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4776579	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4776581	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776584	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4776586	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4777464	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4777467	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4777469	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4777471	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777474	0.99[ASN][1000 genomes]
rs4777477	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777478	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777480	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777484	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777489	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55854204	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62023342	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62025574	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71395051	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7170461	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170754	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172309	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7177242	0.83[EUR][1000 genomes]
rs7183748	0.84[EUR][1000 genomes]
rs7183749	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7403191	0.84[EUR][1000 genomes]
rs8025504	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8028532	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8032038	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8747	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9120	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs972028	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs972029	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv569907	chr15:72154000-72215065	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv569908	chr15:72154000-72218036	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	nsv457195	chr15:72177659-72250741	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv569909	chr15:72177659-72250741	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16956381	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72122400-72195000	Weak transcription	NHEK	skin
2	chr15:72122600-72195800	Weak transcription	Gastric	stomach
3	chr15:72142600-72199200	Weak transcription	Hela-S3	cervix
4	chr15:72144600-72223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:72161000-72211000	Weak transcription	Small Intestine	intestine
6	chr15:72164000-72218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:72167000-72197800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:72170200-72194000	Weak transcription	Fetal Intestine Small	intestine
9	chr15:72173000-72200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:72176000-72193400	Weak transcription	Psoas Muscle	Psoas
11	chr15:72178200-72193800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:72178400-72195000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:72178800-72195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:72182400-72193600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:72185600-72198600	Weak transcription	A549	lung
16	chr15:72189200-72198000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:72189400-72193800	Strong transcription	Fetal Lung	lung
18	chr15:72189400-72194000	Strong transcription	Fetal Muscle Leg	muscle
19	chr15:72189400-72194000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:72189400-72194000	Strong transcription	HSMM	muscle
21	chr15:72189400-72194200	Strong transcription	Fetal Brain Female	brain
22	chr15:72189400-72194600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:72189400-72194600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:72189400-72195000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:72189400-72195200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:72189400-72195400	Weak transcription	HepG2	liver
27	chr15:72189400-72196000	Strong transcription	NHDF-Ad	bronchial
28	chr15:72189400-72196800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:72189400-72196800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr15:72189400-72197400	Strong transcription	Adipose Nuclei	Adipose
31	chr15:72189400-72197400	Strong transcription	Placenta	Placenta
32	chr15:72189400-72197600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:72189400-72197800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:72189600-72194200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:72189600-72194200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr15:72189600-72194200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:72189600-72194600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:72189800-72194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:72189800-72194200	Strong transcription	Left Ventricle	heart
40	chr15:72189800-72197200	Strong transcription	Liver	Liver
41	chr15:72189800-72197400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:72190000-72194000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:72190200-72193800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:72190400-72194200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:72190400-72195400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:72190600-72193600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:72190600-72194000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:72190600-72194000	Strong transcription	Pancreas	Pancrea
49	chr15:72190600-72194000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr15:72190800-72203800	Weak transcription	HMEC	breast

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