Variant report

Variant	rs7183748
Chromosome Location	chr15:72192579-72192580
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10518979	0.81[EUR][1000 genomes]
rs1074330	0.81[EUR][1000 genomes]
rs11072338	0.81[EUR][1000 genomes]
rs11072339	0.81[EUR][1000 genomes]
rs11633167	0.86[EUR][1000 genomes]
rs11634608	0.83[EUR][1000 genomes]
rs11852789	0.81[EUR][1000 genomes]
rs11853268	0.81[EUR][1000 genomes]
rs12050794	0.84[EUR][1000 genomes]
rs12148078	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12161990	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12439494	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12592364	0.81[EUR][1000 genomes]
rs12593134	0.81[EUR][1000 genomes]
rs12595228	0.81[EUR][1000 genomes]
rs12595464	0.81[EUR][1000 genomes]
rs12899485	0.84[EUR][1000 genomes]
rs12902006	0.81[EUR][1000 genomes]
rs12903484	0.81[EUR][1000 genomes]
rs12903980	0.84[EUR][1000 genomes]
rs12906711	0.81[EUR][1000 genomes]
rs12911154	0.81[EUR][1000 genomes]
rs12912771	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913042	0.82[EUR][1000 genomes]
rs12916694	0.81[EUR][1000 genomes]
rs12916951	0.81[EUR][1000 genomes]
rs12917428	0.81[EUR][1000 genomes]
rs1384007	0.81[EUR][1000 genomes]
rs1481860	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1481861	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1481862	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1552134	0.81[ASN][1000 genomes]
rs16956273	0.87[EUR][1000 genomes]
rs16956328	0.83[EUR][1000 genomes]
rs16956369	0.86[EUR][1000 genomes]
rs16956381	0.84[EUR][1000 genomes]
rs16956444	0.81[EUR][1000 genomes]
rs16956452	0.81[EUR][1000 genomes]
rs2035379	0.81[EUR][1000 genomes]
rs2054601	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2128112	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2200056	0.81[EUR][1000 genomes]
rs2306488	0.81[EUR][1000 genomes]
rs2306489	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2306490	0.81[EUR][1000 genomes]
rs2306576	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2415120	0.82[EUR][1000 genomes]
rs2415121	0.80[EUR][1000 genomes]
rs2415126	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2415128	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28650442	0.85[EUR][1000 genomes]
rs28717020	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2899773	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2899775	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2899776	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2929508	0.82[EUR][1000 genomes]
rs2929509	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2929510	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2929511	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2929513	0.82[EUR][1000 genomes]
rs2929517	0.81[EUR][1000 genomes]
rs2929525	0.87[EUR][1000 genomes]
rs2929527	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2929528	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2929532	0.80[ASN][1000 genomes]
rs2930069	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957361	0.80[ASN][1000 genomes]
rs2957365	0.80[ASN][1000 genomes]
rs2957368	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957373	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2957375	0.83[ASN][1000 genomes]
rs2957724	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2957725	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2957728	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2957734	0.83[EUR][1000 genomes]
rs2957735	0.83[EUR][1000 genomes]
rs2957736	0.83[EUR][1000 genomes]
rs2957737	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2957740	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957742	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2957743	0.88[ASN][1000 genomes]
rs2957745	0.82[EUR][1000 genomes]
rs2957746	0.87[EUR][1000 genomes]
rs2957750	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34085279	0.85[EUR][1000 genomes]
rs34137768	0.80[EUR][1000 genomes]
rs34514871	0.80[EUR][1000 genomes]
rs35021156	0.81[EUR][1000 genomes]
rs35115747	0.81[EUR][1000 genomes]
rs3759820	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3784313	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4526973	0.84[EUR][1000 genomes]
rs4776579	0.83[AMR][1000 genomes]
rs4776581	0.81[EUR][1000 genomes]
rs4776584	0.81[EUR][1000 genomes]
rs4777464	0.81[AMR][1000 genomes]
rs4777466	0.80[EUR][1000 genomes]
rs4777469	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4777471	0.80[EUR][1000 genomes]
rs4777477	0.81[EUR][1000 genomes]
rs4777478	0.81[EUR][1000 genomes]
rs4777485	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62023342	0.84[EUR][1000 genomes]
rs62023343	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62025574	0.81[EUR][1000 genomes]
rs6494973	0.86[EUR][1000 genomes]
rs6494975	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6494990	0.89[EUR][1000 genomes]
rs71395051	0.81[EUR][1000 genomes]
rs7170461	0.81[EUR][1000 genomes]
rs7170754	0.81[EUR][1000 genomes]
rs7173626	0.85[EUR][1000 genomes]
rs7175373	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7177242	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7403191	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7496582	0.85[EUR][1000 genomes]
rs7497104	0.87[EUR][1000 genomes]
rs8025504	0.81[EUR][1000 genomes]
rs8028115	0.80[ASN][1000 genomes]
rs8036307	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8040216	0.81[EUR][1000 genomes]
rs8182011	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9302260	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs972028	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs972029	0.85[EUR][1000 genomes]
rs982752	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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
rs7183748	MYO9A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 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	chr15:72131800-72192800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:72142600-72199200	Weak transcription	Hela-S3	cervix
5	chr15:72144600-72223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:72161000-72211000	Weak transcription	Small Intestine	intestine
7	chr15:72164000-72218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:72167000-72197800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:72170200-72194000	Weak transcription	Fetal Intestine Small	intestine
10	chr15:72171200-72192600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr15:72173000-72200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:72176000-72193400	Weak transcription	Psoas Muscle	Psoas
13	chr15:72178200-72193800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:72178400-72195000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:72178800-72195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:72182400-72193600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:72185600-72198600	Weak transcription	A549	lung
18	chr15:72188800-72193200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:72189200-72198000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr15:72189400-72192600	Strong transcription	Primary hematopoietic stem cells	blood
21	chr15:72189400-72193800	Strong transcription	Fetal Lung	lung
22	chr15:72189400-72194000	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:72189400-72194000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr15:72189400-72194000	Strong transcription	HSMM	muscle
25	chr15:72189400-72194200	Strong transcription	Fetal Brain Female	brain
26	chr15:72189400-72194600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr15:72189400-72194600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr15:72189400-72195000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:72189400-72195200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:72189400-72195400	Weak transcription	HepG2	liver
31	chr15:72189400-72196000	Strong transcription	NHDF-Ad	bronchial
32	chr15:72189400-72196800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:72189400-72196800	Strong transcription	Stomach Smooth Muscle	stomach
34	chr15:72189400-72197400	Strong transcription	Adipose Nuclei	Adipose
35	chr15:72189400-72197400	Strong transcription	Placenta	Placenta
36	chr15:72189400-72197600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:72189400-72197800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:72189600-72194200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:72189600-72194200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr15:72189600-72194200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:72189600-72194600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:72189800-72192800	Strong transcription	Primary T cells from cord blood	blood
43	chr15:72189800-72194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:72189800-72194200	Strong transcription	Left Ventricle	heart
45	chr15:72189800-72197200	Strong transcription	Liver	Liver
46	chr15:72189800-72197400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:72190000-72192600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr15:72190000-72192600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:72190000-72192800	Strong transcription	Fetal Stomach	stomach
50	chr15:72190000-72194000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links