Variant report

Variant	rs4777485
Chromosome Location	chr15:72389384-72389385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1000281	0.83[CEU][hapmap]
rs1035744	0.83[CEU][hapmap]
rs10518979	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1074330	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10851850	0.83[CEU][hapmap]
rs11072338	0.82[EUR][1000 genomes]
rs11072339	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11072346	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11630170	0.94[CEU][hapmap]
rs11630611	0.80[CEU][hapmap]
rs11634608	0.94[CEU][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11637611	0.83[CEU][hapmap]
rs11639282	0.80[ASN][1000 genomes]
rs11852789	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11853268	0.81[EUR][1000 genomes]
rs12050895	0.83[EUR][1000 genomes]
rs12148078	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12439494	0.83[EUR][1000 genomes]
rs12439900	0.85[EUR][1000 genomes]
rs12591426	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12592044	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12592364	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12593134	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12593908	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12595228	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12595464	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12901580	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12901886	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12902006	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12903484	0.82[EUR][1000 genomes]
rs12906711	0.82[EUR][1000 genomes]
rs12908300	0.82[EUR][1000 genomes]
rs12908882	0.80[AMR][1000 genomes]
rs12911154	0.82[EUR][1000 genomes]
rs12912771	0.85[EUR][1000 genomes]
rs12914070	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12916694	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12916951	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs12917428	0.81[EUR][1000 genomes]
rs1384007	0.82[EUR][1000 genomes]
rs13858	0.89[CEU][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1481860	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1481861	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1481862	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16956444	0.82[EUR][1000 genomes]
rs16956452	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2034879	0.84[CEU][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035379	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2200056	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2278987	0.94[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2306488	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2306489	0.86[EUR][1000 genomes]
rs2306490	0.82[EUR][1000 genomes]
rs2415128	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs28717020	0.81[EUR][1000 genomes]
rs2899775	0.85[ASN][1000 genomes]
rs2899776	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2929508	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2929509	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2929510	0.81[ASN][1000 genomes]
rs2929511	0.81[EUR][1000 genomes]
rs2929513	0.81[EUR][1000 genomes]
rs2929517	0.83[EUR][1000 genomes]
rs2929518	0.94[CEU][hapmap]
rs2929525	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2929526	0.82[ASN][1000 genomes]
rs2929527	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2929528	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2929532	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2930069	0.81[EUR][1000 genomes]
rs2957361	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957365	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957368	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2957373	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2957375	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957724	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs2957725	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2957728	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957734	0.94[CEU][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957735	0.94[CEU][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957736	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957737	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2957740	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2957742	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957743	0.93[ASN][1000 genomes]
rs2957745	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957746	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957750	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34137768	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35112434	0.80[AMR][1000 genomes]
rs35115747	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35167572	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35186252	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35258998	0.82[AMR][1000 genomes]
rs35673773	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3743224	0.88[CEU][hapmap]
rs3759820	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759900	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4131630	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4238449	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs4411469	0.83[AMR][1000 genomes]
rs4445848	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4454922	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4776581	0.82[EUR][1000 genomes]
rs4776584	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4776586	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4777471	0.81[EUR][1000 genomes]
rs4777477	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4777478	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4777480	0.84[EUR][1000 genomes]
rs4777484	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4777489	0.80[AMR][1000 genomes]
rs55679065	0.80[ASN][1000 genomes]
rs55854204	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59975112	0.82[ASN][1000 genomes]
rs62025574	0.81[EUR][1000 genomes]
rs6494975	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6494990	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6494992	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6494997	0.83[CEU][hapmap]
rs71395051	0.81[EUR][1000 genomes]
rs7162299	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7164780	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7170456	0.80[CEU][hapmap]
rs7170461	0.81[EUR][1000 genomes]
rs7170754	0.81[EUR][1000 genomes]
rs7172158	0.84[ASN][1000 genomes]
rs7172309	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7175197	0.80[CEU][hapmap]
rs7175373	0.82[EUR][1000 genomes]
rs7175792	0.94[CEU][hapmap];0.80[ASN][1000 genomes]
rs7177242	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7182776	0.88[CEU][hapmap]
rs7183055	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7183748	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7183749	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7403191	0.90[EUR][1000 genomes]
rs8023788	0.80[CEU][hapmap];0.80[ASN][1000 genomes]
rs8025504	0.82[EUR][1000 genomes]
rs8025939	0.80[ASN][1000 genomes]
rs8027164	0.94[CEU][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028115	0.94[CEU][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8028532	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8030815	0.94[CEU][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8032038	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8037381	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8040216	0.93[CEU][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8040828	0.83[CEU][hapmap]
rs8182011	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982752	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv904337	chr15:72361942-72390515	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	esv3310927	chr15:72383998-72390096	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3310931	chr15:72384923-72389471	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	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
16	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4777485	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	chr15:72361600-72390600	Weak transcription	Aorta	Aorta
3	chr15:72361600-72391400	Weak transcription	Ovary	ovary
4	chr15:72367200-72407600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:72372200-72399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:72373600-72394400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:72375000-72408200	Weak transcription	Primary B cells from cord blood	blood
8	chr15:72375800-72395600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:72377800-72397600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:72378800-72391400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:72378800-72393200	Weak transcription	Fetal Intestine Large	intestine
12	chr15:72378800-72395800	Weak transcription	Colon Smooth Muscle	Colon
13	chr15:72379000-72395600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:72379000-72407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:72379200-72393200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:72379200-72395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:72379800-72391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:72379800-72406200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:72380000-72407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:72380200-72395600	Weak transcription	Brain Anterior Caudate	brain
21	chr15:72380200-72395600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:72380400-72390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:72380400-72390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:72380600-72393200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:72380800-72395400	Weak transcription	Psoas Muscle	Psoas
26	chr15:72381000-72391400	Weak transcription	Primary T cells from cord blood	blood
27	chr15:72384800-72392400	Weak transcription	Stomach Mucosa	stomach
28	chr15:72388200-72395600	Weak transcription	Osteobl	bone
29	chr15:72388400-72389600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:72388400-72389600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr15:72388400-72396200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr15:72388600-72389400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:72388600-72389400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:72388600-72389600	ZNF genes & repeats	Fetal Muscle Leg	muscle
35	chr15:72388800-72389800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:72388800-72391400	Weak transcription	Fetal Intestine Small	intestine
37	chr15:72388800-72391400	Weak transcription	Fetal Stomach	stomach
38	chr15:72389000-72389600	Strong transcription	Fetal Lung	lung
39	chr15:72389200-72389600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr15:72389200-72395600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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