Variant report

Variant	rs35186252
Chromosome Location	chr15:72392515-72392516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1037680	0.82[EUR][1000 genomes]
rs10518979	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1074330	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11072338	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11072339	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072346	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11852789	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11853101	0.86[EUR][1000 genomes]
rs11853268	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11858015	0.85[EUR][1000 genomes]
rs12050895	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12439900	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591313	0.84[EUR][1000 genomes]
rs12591338	0.84[EUR][1000 genomes]
rs12591426	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12592044	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12592364	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593134	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593908	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12595228	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12595464	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12898585	0.81[EUR][1000 genomes]
rs12899485	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12901580	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12901886	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12902006	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902661	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12903484	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12903980	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12906711	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12908300	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12908882	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12911154	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12913042	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12914070	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916694	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916951	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12917428	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1384007	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1481860	0.83[EUR][1000 genomes]
rs1481861	0.82[EUR][1000 genomes]
rs16953769	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16956302	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16956328	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16956381	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16956444	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16956452	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16956634	0.85[EUR][1000 genomes]
rs2035379	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054601	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2200056	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2279283	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2306488	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2306490	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2415130	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2607090	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2856929	0.82[EUR][1000 genomes]
rs2899773	0.89[EUR][1000 genomes];0.88[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	0.84[ASN][1000 genomes]
rs34137768	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34189331	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34487006	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34514871	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35021156	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35112434	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35115747	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35167572	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35206011	0.86[EUR][1000 genomes]
rs35258998	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35673773	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35713471	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3743224	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3803471	0.83[EUR][1000 genomes]
rs4131630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238449	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4411469	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4445848	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4776581	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4776584	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4776586	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4777469	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4777471	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4777474	0.88[ASN][1000 genomes]
rs4777477	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777478	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777480	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4777484	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55854204	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60921026	0.86[ASN][1000 genomes]
rs62023342	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62025574	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6494990	0.83[EUR][1000 genomes]
rs713048	0.80[EUR][1000 genomes]
rs71395051	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7170461	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7170754	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7172309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7182776	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7183196	0.80[EUR][1000 genomes]
rs7183749	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72733369	0.84[EUR][1000 genomes]
rs8025504	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8028532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8032038	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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];0.82[EUR][1000 genomes]
rs8192386	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8192431	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs972028	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs972029	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
7	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
8	esv11550	chr15:72353301-72395288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv869747	chr15:72372245-72403103	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
11	nsv510665	chr15:72374862-72407548	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv511557	chr15:72386175-72408069	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv569929	chr15:72386349-72403001	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3397375	chr15:72391923-72394771	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35186252	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72351200-72395800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:72373600-72394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
6	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:72378800-72393200	Weak transcription	Fetal Intestine Large	intestine
9	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
10	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:72379200-72393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
17	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:72380600-72393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
20	chr15:72388200-72395600	Weak transcription	Osteobl	bone
21	chr15:72388400-72396200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr15:72389200-72395600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:72389400-72395800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:72389400-72396400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:72389600-72395600	Weak transcription	Fetal Lung	lung
26	chr15:72389600-72395600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:72389600-72403600	Weak transcription	Fetal Muscle Leg	muscle
28	chr15:72389800-72396200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:72390400-72407600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr15:72390800-72395000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:72390800-72395000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:72390800-72395600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr15:72390800-72395600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:72391000-72395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:72391200-72404200	Weak transcription	HSMMtube	muscle
36	chr15:72391400-72392600	Strong transcription	Fetal Intestine Small	intestine
37	chr15:72391400-72392600	Strong transcription	Fetal Stomach	stomach
38	chr15:72391800-72401600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:72391800-72406600	Weak transcription	Ovary	ovary
40	chr15:72392000-72395600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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