Variant report

Variant	rs7173487
Chromosome Location	chr15:43750239-43750240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs101094	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10518820	0.88[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs1095386	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs11858640	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12323999	0.84[AMR][1000 genomes]
rs12324584	0.86[AMR][1000 genomes]
rs12437725	0.98[EUR][1000 genomes]
rs12443102	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs1549525	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs1814538	1.00[CEU][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1837960	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs2242069	1.00[MEX][hapmap]
rs2243434	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs2245054	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2245176	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2245664	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2245715	0.88[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes]
rs2245780	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2245790	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2245908	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2251538	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2251844	0.81[AMR][1000 genomes]
rs2253708	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2254321	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2254325	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2255383	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2255440	0.88[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes]
rs2256764	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2260160	0.88[CEU][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs2264049	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2264239	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2264248	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2264876	0.88[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2278859	0.86[CEU][hapmap]
rs2278860	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs2412779	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs2412780	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs2412782	0.83[AMR][1000 genomes]
rs2439	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs2439831	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2439832	0.85[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2439836	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2439841	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2439848	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2439850	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2444028	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2444029	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2444032	1.00[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2444247	0.84[AMR][1000 genomes]
rs2444249	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2444250	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2447193	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2447196	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs2447197	0.80[EUR][1000 genomes]
rs2447198	0.80[EUR][1000 genomes]
rs2447208	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs2447211	0.88[CEU][hapmap]
rs2467736	1.00[CEU][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2467739	1.00[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2467740	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2467743	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2467746	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2470121	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2470130	0.81[AMR][1000 genomes]
rs2470131	0.81[AMR][1000 genomes]
rs2584702	0.84[AMR][1000 genomes]
rs2584706	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2584725	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2584726	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2601014	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2614811	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2614819	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs28475234	0.80[EUR][1000 genomes]
rs28495368	0.88[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs28628574	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28666488	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2899082	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs2920780	0.80[EUR][1000 genomes]
rs2920781	0.88[CEU][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs2927071	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2927072	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs3097773	0.88[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs3101443	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3213990	1.00[CEU][hapmap]
rs3742969	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs3742971	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs3809481	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes]
rs4075674	1.00[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs45585139	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs471229	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs478104	0.88[CEU][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs483724	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs484029	0.88[CEU][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap]
rs488756	0.82[MEX][hapmap]
rs495175	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs496584	0.88[CEU][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes]
rs524417	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs524527	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs526083	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs526450	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs527921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537115	0.88[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs544122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550239	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs558656	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs561863	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs565007	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6493085	0.88[CEU][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap]
rs6493087	1.00[CEU][hapmap]
rs689596	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs689616	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs689647	1.00[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs689754	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs689781	1.00[CEU][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs689826	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs689835	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs689883	0.84[AMR][1000 genomes]
rs690002	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs690038	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs690170	0.83[ASN][1000 genomes]
rs690263	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs690316	1.00[CEU][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs690436	1.00[CEU][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs694985	1.00[CEU][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes]
rs7170489	1.00[CEU][hapmap]
rs8039638	0.84[TSI][hapmap]
rs8039671	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8042868	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs825739	0.88[CEU][hapmap]
rs825740	0.88[CEU][hapmap]
rs884704	0.82[MEX][hapmap];0.81[TSI][hapmap]
rs935901	0.87[CEU][hapmap]
rs9920763	0.98[EUR][1000 genomes]
rs999047	0.95[MEX][hapmap];0.81[TSI][hapmap]

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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs7173487	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs7173487	ADAL	cis	multi-tissue	Pritchard
rs7173487	ADAL	cis	Artery Tibial	GTEx
rs7173487	ADAL	cis	Esophagus Muscularis	GTEx
rs7173487	ELL3	cis	lymphoblastoid	seeQTL
rs7173487	CKMT1A	cis	Esophagus Mucosa	GTEx
rs7173487	ADAL	cis	Nerve Tibial	GTEx
rs7173487	CATSPER2	cis	Esophagus Mucosa	GTEx
rs7173487	C15orf63	cis	lymphoblastoid	seeQTL
rs7173487	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs7173487	ADAL	cis	Thyroid	GTEx
rs7173487	ADAL	cis	lung	GTEx
rs7173487	ADAL	cis	Stomach	GTEx
rs7173487	ADAL	cis	Artery Aorta	GTEx
rs7173487	SERF2	cis	lymphoblastoid	seeQTL
rs7173487	ADAL	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
2	chr15:43730600-43765600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:43730600-43766800	Weak transcription	Small Intestine	intestine
4	chr15:43731200-43761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:43731800-43752000	Weak transcription	Pancreas	Pancrea
6	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:43739600-43761600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:43741600-43774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:43743000-43750600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:43743000-43755000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:43743000-43757000	Strong transcription	Fetal Stomach	stomach
13	chr15:43743200-43753600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr15:43743600-43755200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:43743600-43763400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr15:43743800-43766800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:43743800-43770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:43743800-43773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:43744000-43760800	Strong transcription	Fetal Intestine Small	intestine
20	chr15:43744000-43762600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:43744000-43770600	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:43744000-43770600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:43744000-43773400	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:43744000-43773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:43744200-43760400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:43746200-43753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:43746200-43754800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:43746400-43750600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:43746400-43751000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:43746400-43755800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:43746600-43753000	Strong transcription	Brain Germinal Matrix	brain
35	chr15:43746600-43753400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:43746600-43754800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:43746600-43773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:43746800-43751600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr15:43747000-43752600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr15:43747000-43754000	Strong transcription	Thymus	Thymus
41	chr15:43747000-43755600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:43747200-43751000	Strong transcription	Placenta	Placenta
43	chr15:43747200-43753600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:43747400-43751000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:43747400-43751000	Strong transcription	Osteobl	bone
46	chr15:43747600-43751200	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr15:43747600-43756000	Weak transcription	Right Atrium	heart
48	chr15:43747600-43756400	Strong transcription	Fetal Intestine Large	intestine
49	chr15:43747800-43751000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:43747800-43751600	Strong transcription	Primary T cells from cord blood	blood

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