Variant report

Variant	rs2467737
Chromosome Location	chr15:43737188-43737189
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:164)

rs_ID	r²[population]
rs101094	0.99[ASN][1000 genomes]
rs1058298	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1060939	0.91[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1079309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070399	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1133395	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11637572	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs11858640	0.99[ASN][1000 genomes]
rs12102205	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12148735	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12905772	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1814538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1869258	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2012467	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2242069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2244746	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs2244981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245054	0.99[ASN][1000 genomes]
rs2245176	0.99[ASN][1000 genomes]
rs2245664	0.97[ASN][1000 genomes]
rs2245715	0.95[JPT][hapmap]
rs2245780	0.99[ASN][1000 genomes]
rs2245785	0.92[ASN][1000 genomes]
rs2245790	0.99[ASN][1000 genomes]
rs2245908	0.99[ASN][1000 genomes]
rs2249952	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2250743	0.97[ASN][1000 genomes]
rs2250750	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2251538	0.99[ASN][1000 genomes]
rs2253268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2253708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2253807	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2254321	0.96[ASN][1000 genomes]
rs2254325	0.94[ASN][1000 genomes]
rs2254927	0.80[EUR][1000 genomes]
rs2255383	0.99[ASN][1000 genomes]
rs2255410	0.88[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2255440	0.95[JPT][hapmap]
rs2255663	0.91[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2264049	0.98[ASN][1000 genomes]
rs2264050	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264239	0.99[ASN][1000 genomes]
rs2264248	0.96[ASN][1000 genomes]
rs2264876	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2278856	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2278857	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2412781	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2439831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2439832	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2439833	0.88[ASN][1000 genomes]
rs2439836	0.99[ASN][1000 genomes]
rs2439839	0.84[AMR][1000 genomes]
rs2439841	0.97[ASN][1000 genomes]
rs2439843	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2439845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2439846	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2439848	0.99[ASN][1000 genomes]
rs2439850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2444028	1.00[ASN][1000 genomes]
rs2444029	0.99[ASN][1000 genomes]
rs2444032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2444037	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2444247	1.00[ASN][1000 genomes]
rs2444249	0.96[ASN][1000 genomes]
rs2444250	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2444251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2467736	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2467738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2467740	0.99[ASN][1000 genomes]
rs2467741	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2467742	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2467743	0.99[ASN][1000 genomes]
rs2467745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2584694	0.95[ASN][1000 genomes]
rs2584700	0.93[EUR][1000 genomes]
rs2584701	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2584706	0.99[ASN][1000 genomes]
rs2584725	0.93[ASN][1000 genomes]
rs2584726	0.99[ASN][1000 genomes]
rs2584727	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2602141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28649346	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28666488	0.99[ASN][1000 genomes]
rs28702649	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2924368	0.97[ASN][1000 genomes]
rs2924369	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3097773	0.91[JPT][hapmap]
rs3809482	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4296223	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4401024	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4547312	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs471229	1.00[ASN][1000 genomes]
rs478028	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs480108	0.88[CEU][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs483724	0.99[ASN][1000 genomes]
rs485148	0.80[AMR][1000 genomes]
rs493377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs495175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs496584	0.95[JPT][hapmap]
rs506120	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs507178	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs509306	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs510108	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs512628	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs518288	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523156	0.87[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes]
rs524417	0.99[ASN][1000 genomes]
rs526083	0.92[ASN][1000 genomes]
rs529611	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs536313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs538238	0.91[CEU][hapmap]
rs542898	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs548704	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs550239	0.99[ASN][1000 genomes]
rs552701	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs558656	0.99[ASN][1000 genomes]
rs560191	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs561863	0.99[ASN][1000 genomes]
rs565007	0.98[ASN][1000 genomes]
rs570933	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs572837	0.91[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs573615	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs576557	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6493083	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493084	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6493086	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6493087	0.81[JPT][hapmap]
rs689596	0.98[ASN][1000 genomes]
rs689616	0.99[ASN][1000 genomes]
rs689647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs689693	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs689754	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs689767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs689797	0.91[CEU][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs689816	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs689826	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs689835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs690002	0.92[ASN][1000 genomes]
rs690012	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs690038	0.94[ASN][1000 genomes]
rs690263	0.95[ASN][1000 genomes]
rs690276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs690316	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs690367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs690446	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690466	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs690472	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690512	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694985	0.95[JPT][hapmap]
rs7163288	1.00[CEU][hapmap]
rs7166812	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7167882	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7170152	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7172374	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7497780	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8039671	0.84[ASN][1000 genomes]
rs8042688	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9920879	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2467737	STRCP1	cis	Esophagus Muscularis	GTEx
rs2467737	ZSCAN29	cis	multi-tissue	Pritchard
rs2467737	ADAL	cis	Nerve Tibial	GTEx
rs2467737	ELL3	cis	multi-tissue	Pritchard
rs2467737	ZSCAN29	cis	Thyroid	GTEx
rs2467737	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2467737	AC011330.5	cis	Artery Tibial	GTEx
rs2467737	TGM5	cis	multi-tissue	Pritchard
rs2467737	AC011330.5	cis	Thyroid	GTEx
rs2467737	TGM7	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
3	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:43703200-43739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:43709400-43741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:43713600-43750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:43714000-43748200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:43715000-43747600	Weak transcription	Right Ventricle	heart
9	chr15:43715600-43748200	Weak transcription	Colonic Mucosa	Colon
10	chr15:43721600-43740200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:43722000-43740000	Strong transcription	Fetal Muscle Leg	muscle
12	chr15:43724800-43738000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:43724800-43738600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:43725000-43747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:43725000-43748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:43725000-43748800	Weak transcription	Esophagus	oesophagus
17	chr15:43726400-43748600	Weak transcription	Psoas Muscle	Psoas
18	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
19	chr15:43726800-43740000	Strong transcription	Fetal Stomach	stomach
20	chr15:43728200-43740000	Strong transcription	Fetal Intestine Large	intestine
21	chr15:43729000-43738600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:43730400-43738600	Weak transcription	Gastric	stomach
23	chr15:43730400-43738600	Weak transcription	Lung	lung
24	chr15:43730600-43737400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:43730600-43737400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr15:43730600-43738000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:43730600-43738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:43730600-43738600	Weak transcription	Ovary	ovary
29	chr15:43730600-43738600	Weak transcription	Thymus	Thymus
30	chr15:43730600-43748000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:43730600-43748000	Weak transcription	Aorta	Aorta
32	chr15:43730600-43748000	Weak transcription	Fetal Brain Male	brain
33	chr15:43730600-43765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
35	chr15:43731200-43761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:43731800-43738600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:43731800-43748000	Weak transcription	Spleen	Spleen
38	chr15:43731800-43752000	Weak transcription	Pancreas	Pancrea
39	chr15:43732000-43738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:43733200-43737200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:43733200-43737400	Weak transcription	Left Ventricle	heart
42	chr15:43733200-43741000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:43733400-43737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:43733400-43737400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr15:43733400-43737800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:43733600-43737200	Weak transcription	HepG2	liver
47	chr15:43733600-43737400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:43733600-43737800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:43733800-43737400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:43733800-43737600	Weak transcription	Hela-S3	cervix

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