Variant report

Variant	rs2415130
Chromosome Location	chr15:72242554-72242555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10518979	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1074330	0.94[CEU][hapmap];0.87[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11072338	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11072339	0.85[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072346	0.83[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11633167	0.89[CEU][hapmap]
rs11634608	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs11852789	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11853268	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12050895	0.86[EUR][1000 genomes]
rs12148078	0.85[EUR][1000 genomes]
rs12439494	0.83[CEU][hapmap]
rs12439900	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12591426	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12592044	0.94[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12592364	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12593134	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12593908	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12595228	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12595464	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12898585	0.83[EUR][1000 genomes]
rs12899485	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12901580	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12901886	0.94[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12902006	0.94[CEU][hapmap];0.87[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12902661	0.82[AMR][1000 genomes]
rs12903484	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12903980	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12906711	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12908300	0.86[EUR][1000 genomes]
rs12908882	0.84[AMR][1000 genomes]
rs12911154	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913042	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12914070	0.94[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12916694	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12916951	0.94[CEU][hapmap];0.82[CHB][hapmap];0.80[JPT][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12917428	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1384007	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13858	0.84[CEU][hapmap]
rs1481862	0.80[EUR][1000 genomes]
rs16953769	0.85[AMR][1000 genomes]
rs16956302	0.81[EUR][1000 genomes]
rs16956328	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16956381	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16956444	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16956452	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2035379	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054601	0.88[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2200056	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2246225	0.82[CEU][hapmap];0.87[CHB][hapmap]
rs2278987	0.88[CEU][hapmap]
rs2279283	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2291278	0.83[CHB][hapmap]
rs2306488	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2306489	0.84[EUR][1000 genomes]
rs2306490	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2306576	0.89[CEU][hapmap]
rs2415120	0.89[CEU][hapmap]
rs2415128	0.84[CEU][hapmap]
rs2625529	0.82[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap]
rs2625530	0.81[EUR][1000 genomes]
rs2723343	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs2742323	0.88[CEU][hapmap];0.87[CHB][hapmap];0.82[AMR][1000 genomes]
rs2899773	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2899776	0.81[EUR][1000 genomes]
rs2929508	0.80[EUR][1000 genomes]
rs2929509	0.81[EUR][1000 genomes]
rs2929518	0.89[CEU][hapmap]
rs2929525	0.85[EUR][1000 genomes]
rs2957373	0.83[CEU][hapmap]
rs2957724	0.89[CEU][hapmap]
rs2957725	0.82[CEU][hapmap]
rs2957734	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2957735	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2957736	0.81[EUR][1000 genomes]
rs2957737	0.82[CEU][hapmap]
rs2957745	0.80[EUR][1000 genomes]
rs2957746	0.85[EUR][1000 genomes]
rs34085279	0.83[ASN][1000 genomes]
rs34137768	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34189331	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34487006	0.85[AMR][1000 genomes]
rs34514871	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35021156	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35112434	0.84[AMR][1000 genomes]
rs35115747	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35167572	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35186252	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35258998	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35673773	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35713471	0.85[AMR][1000 genomes]
rs3743224	0.83[AMR][1000 genomes]
rs3759820	0.80[EUR][1000 genomes]
rs4131630	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4238447	0.81[EUR][1000 genomes]
rs4238449	0.93[CEU][hapmap];0.89[AMR][1000 genomes]
rs4411469	0.89[AMR][1000 genomes]
rs4445848	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4776581	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4776584	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4776586	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4777469	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4777471	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4777474	0.87[ASN][1000 genomes]
rs4777477	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4777478	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4777480	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4777484	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4777489	0.87[CHB][hapmap];0.80[JPT][hapmap];0.86[AMR][1000 genomes]
rs55854204	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62023342	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62025574	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6494973	0.89[CEU][hapmap]
rs6494975	0.83[CEU][hapmap]
rs6494992	0.88[CEU][hapmap]
rs71395051	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7170461	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7170754	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7172309	0.94[CEU][hapmap];0.87[CHB][hapmap];0.80[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7175792	0.89[CEU][hapmap]
rs7177242	0.82[CEU][hapmap]
rs7183749	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7496582	0.89[CEU][hapmap]
rs7497104	0.88[CEU][hapmap]
rs8025504	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8027164	0.89[CEU][hapmap]
rs8028115	0.89[CEU][hapmap]
rs8028532	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8030815	0.89[CEU][hapmap]
rs8032038	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8040216	0.86[CEU][hapmap]
rs8192431	0.81[AMR][1000 genomes]
rs8747	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs9120	0.88[CEU][hapmap];0.83[CHB][hapmap]
rs972028	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs972029	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs982752	0.82[CEU][hapmap]

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	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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2415130	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72192400-72249400	Weak transcription	NHLF	lung
2	chr15:72225000-72246000	Weak transcription	Colonic Mucosa	Colon
3	chr15:72225000-72249400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:72225000-72249600	Weak transcription	NH-A	brain
5	chr15:72225000-72255400	Weak transcription	Left Ventricle	heart
6	chr15:72225000-72259800	Weak transcription	Brain Anterior Caudate	brain
7	chr15:72225000-72263600	Weak transcription	Fetal Stomach	stomach
8	chr15:72225000-72267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
12	chr15:72225000-72305600	Weak transcription	Gastric	stomach
13	chr15:72225200-72259200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:72225200-72265000	Weak transcription	Fetal Kidney	kidney
15	chr15:72225800-72243800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:72225800-72243800	Weak transcription	Brain Germinal Matrix	brain
17	chr15:72225800-72270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:72226600-72281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:72226800-72271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:72227000-72252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:72227200-72252200	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:72227200-72254000	Weak transcription	Fetal Intestine Large	intestine
24	chr15:72227400-72253800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:72227600-72265800	Weak transcription	HSMMtube	muscle
26	chr15:72227600-72281600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:72227600-72281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:72227800-72243200	Weak transcription	Primary T cells from cord blood	blood
29	chr15:72227800-72243600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:72227800-72250400	Weak transcription	Adipose Nuclei	Adipose
31	chr15:72227800-72251000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:72227800-72252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:72227800-72281600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
35	chr15:72228200-72265600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:72228200-72268200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:72228600-72243800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:72228600-72251800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr15:72228600-72258800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:72228800-72251600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:72228800-72261400	Weak transcription	Ovary	ovary
42	chr15:72228800-72268000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr15:72228800-72279600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr15:72228800-72281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:72230600-72291000	Weak transcription	Primary B cells from cord blood	blood
46	chr15:72231000-72243000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr15:72231200-72243200	Weak transcription	HSMM	muscle
48	chr15:72231400-72242600	Weak transcription	Placenta	Placenta
49	chr15:72232000-72244000	Weak transcription	Stomach Mucosa	stomach
50	chr15:72232800-72242800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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