Variant report

Variant	rs2929527
Chromosome Location	chr15:72282270-72282271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11072349	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072350	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11630170	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11630611	0.84[AMR][1000 genomes]
rs11631650	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11633167	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11634608	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11639282	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12050794	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12148078	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439494	0.83[EUR][1000 genomes]
rs12912771	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13858	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1481860	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481861	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1481862	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1552134	0.86[ASN][1000 genomes]
rs16956369	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2034879	0.85[AMR][1000 genomes]
rs2128112	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278987	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2306489	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306576	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2415120	0.84[EUR][1000 genomes]
rs2415121	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2415126	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2415128	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2415134	0.81[AMR][1000 genomes]
rs28650442	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28717020	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2899775	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899776	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2929508	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2929509	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2929510	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929511	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929513	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2929517	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2929525	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2929526	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929528	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2929532	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930069	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957361	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957365	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957368	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2957373	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2957375	0.81[ASN][1000 genomes]
rs2957724	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2957725	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957728	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957734	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2957735	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2957736	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2957737	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2957740	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2957742	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957743	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2957745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2957746	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2957750	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759820	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759900	0.84[AMR][1000 genomes]
rs3784313	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4454922	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4511483	0.82[EUR][1000 genomes]
rs4526973	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4777466	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4777485	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55679065	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59975112	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62023343	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6494973	0.88[EUR][1000 genomes]
rs6494975	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6494990	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6494992	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7162299	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7164780	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7170456	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7172158	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7173626	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7175197	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7175373	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7175792	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7177242	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7183055	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183748	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7403191	0.81[EUR][1000 genomes]
rs7496582	0.89[EUR][1000 genomes]
rs7497104	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8023788	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8025939	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8027164	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8028115	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030815	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8032222	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8036307	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8037381	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8040216	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8182011	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9302260	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs982752	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
4	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
5	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
6	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
7	nsv457197	chr15:72203517-72296328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv569910	chr15:72203517-72296328	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv457199	chr15:72261385-72302667	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv569913	chr15:72261385-72302667	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv457200	chr15:72261385-72325595	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv569914	chr15:72261385-72325595	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	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
17	nsv569915	chr15:72267164-72307691	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv569916	chr15:72268986-72325595	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2929527	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
2	chr15:72225000-72305600	Weak transcription	Gastric	stomach
3	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
5	chr15:72230600-72291000	Weak transcription	Primary B cells from cord blood	blood
6	chr15:72244400-72298600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:72246600-72293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:72250200-72291200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:72255200-72284000	Weak transcription	Stomach Mucosa	stomach
10	chr15:72260400-72291200	Weak transcription	Brain Anterior Caudate	brain
11	chr15:72260400-72301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:72261000-72326200	Weak transcription	NH-A	brain
13	chr15:72262400-72293000	Weak transcription	Small Intestine	intestine
14	chr15:72262600-72291000	Weak transcription	NHDF-Ad	bronchial
15	chr15:72263600-72300400	Weak transcription	NHLF	lung
16	chr15:72264000-72301800	Weak transcription	Colonic Mucosa	Colon
17	chr15:72266000-72299000	Weak transcription	Fetal Kidney	kidney
18	chr15:72266400-72323000	Weak transcription	Lung	lung
19	chr15:72266600-72315000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:72266800-72300400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr15:72267600-72298400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:72268400-72302000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:72268600-72298400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:72268600-72299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:72268600-72308200	Weak transcription	Right Ventricle	heart
26	chr15:72268600-72313200	Weak transcription	HMEC	breast
27	chr15:72268800-72291200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:72268800-72291800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:72270000-72283200	Weak transcription	HSMM	muscle
30	chr15:72270200-72294400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:72270600-72297600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr15:72272000-72323200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:72276000-72284200	Strong transcription	Placenta	Placenta
34	chr15:72277200-72325800	Weak transcription	Fetal Heart	heart
35	chr15:72277400-72284200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:72277400-72284600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:72278400-72284800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:72278600-72284000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:72278800-72284000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:72279400-72283400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:72280200-72289400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:72280200-72338800	Weak transcription	Hela-S3	cervix
43	chr15:72280400-72303800	Weak transcription	GM12878-XiMat	blood
44	chr15:72280800-72284400	Weak transcription	HepG2	liver
45	chr15:72280800-72292000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:72280800-72318200	Weak transcription	Pancreas	Pancrea
47	chr15:72281000-72283400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:72281200-72283000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:72281200-72283000	Strong transcription	Fetal Muscle Leg	muscle
50	chr15:72281200-72284400	Strong transcription	Primary T cells from cord blood	blood

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