Variant report

Variant	rs690466
Chromosome Location	chr15:43712042-43712043
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:90286280..90287096-chr15:43711618..43712395,2	NB4	blood:

Variant related genes	Relation type
ENSG00000171492	Chromatin interaction
ENSG00000272931	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs101094	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10518812	0.94[YRI][hapmap]
rs1058298	0.87[ASN][1000 genomes]
rs1060939	0.95[JPT][hapmap]
rs1079309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1095386	0.94[YRI][hapmap]
rs11858640	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12323999	0.86[AMR][1000 genomes]
rs12324584	0.85[AMR][1000 genomes]
rs12911740	1.00[YRI][hapmap]
rs12912744	0.94[YRI][hapmap]
rs12913977	1.00[YRI][hapmap]
rs12914122	1.00[YRI][hapmap]
rs16957680	0.94[YRI][hapmap]
rs16957715	1.00[YRI][hapmap]
rs16957730	1.00[YRI][hapmap]
rs17723479	0.95[YRI][hapmap]
rs17780417	0.95[YRI][hapmap]
rs17780920	0.94[YRI][hapmap]
rs1814538	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1869258	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2242069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2243434	0.86[AMR][1000 genomes]
rs2244981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2245054	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2245176	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2245664	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2245715	0.95[JPT][hapmap]
rs2245780	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2245785	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2245790	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2245908	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2249952	0.99[ASN][1000 genomes]
rs2250743	0.94[ASN][1000 genomes]
rs2250750	0.93[ASN][1000 genomes]
rs2251538	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2251844	0.81[AMR][1000 genomes]
rs2253268	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2253708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2253807	1.00[ASN][1000 genomes]
rs2254321	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2254325	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2255383	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2255410	0.91[JPT][hapmap]
rs2255440	0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs2255663	0.95[JPT][hapmap]
rs2256764	0.82[AMR][1000 genomes]
rs2264049	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2264050	0.96[ASN][1000 genomes]
rs2264239	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2264248	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2264876	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2278860	0.81[AMR][1000 genomes]
rs2412779	0.81[AMR][1000 genomes]
rs2412780	0.81[AMR][1000 genomes]
rs2412782	0.82[AMR][1000 genomes]
rs2439831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2439832	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2439833	0.86[ASN][1000 genomes]
rs2439836	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2439841	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2439845	0.97[ASN][1000 genomes]
rs2439846	0.96[ASN][1000 genomes]
rs2439848	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2439850	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2444028	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2444029	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2444032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2444037	0.88[ASN][1000 genomes]
rs2444247	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2444249	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2444250	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2444251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2467736	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2467737	0.97[ASN][1000 genomes]
rs2467738	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2467739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2467740	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2467741	0.95[ASN][1000 genomes]
rs2467742	0.96[ASN][1000 genomes]
rs2467743	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2467745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2467746	0.82[AMR][1000 genomes]
rs2470130	0.81[AMR][1000 genomes]
rs2470131	0.81[AMR][1000 genomes]
rs2584694	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2584702	0.86[AMR][1000 genomes]
rs2584706	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2584725	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2584726	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2584727	0.99[ASN][1000 genomes]
rs2602141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28461955	0.81[AMR][1000 genomes]
rs28649346	0.95[ASN][1000 genomes]
rs28666488	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs28729853	0.81[AMR][1000 genomes]
rs2899082	0.81[AMR][1000 genomes]
rs2924368	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2924369	0.96[ASN][1000 genomes]
rs3097773	0.90[JPT][hapmap]
rs3213991	0.81[AMR][1000 genomes]
rs4583210	0.81[AMR][1000 genomes]
rs471229	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs480108	0.91[JPT][hapmap]
rs483724	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs493377	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs495175	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs496584	0.95[JPT][hapmap]
rs506120	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs509306	0.99[ASN][1000 genomes]
rs518288	0.96[ASN][1000 genomes]
rs523156	0.95[JPT][hapmap]
rs524417	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs526083	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs527921	0.82[AMR][1000 genomes]
rs529611	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs536313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs537115	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs542898	0.98[ASN][1000 genomes]
rs548704	0.91[ASN][1000 genomes]
rs550239	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs558656	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs560191	0.96[ASN][1000 genomes]
rs561863	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs565007	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs572837	0.95[JPT][hapmap]
rs6493087	0.80[JPT][hapmap]
rs689596	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs689616	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs689647	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs689693	0.88[ASN][1000 genomes]
rs689754	0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs689767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs689781	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs689797	0.95[JPT][hapmap]
rs689816	0.85[ASN][1000 genomes]
rs689826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs689835	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs690002	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs690012	0.98[ASN][1000 genomes]
rs690038	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs690263	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs690276	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs690316	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs690367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs690436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs690446	0.96[ASN][1000 genomes]
rs690472	0.96[ASN][1000 genomes]
rs690512	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs693510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs694725	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs694985	0.95[JPT][hapmap]
rs7173383	1.00[YRI][hapmap]
rs7180812	0.94[YRI][hapmap]
rs7181634	0.94[YRI][hapmap]
rs7497780	0.86[ASN][1000 genomes]
rs8039671	0.81[ASN][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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs690466	ADAL	cis	Artery Tibial	GTEx
rs690466	CKMT1A	cis	Esophagus Mucosa	GTEx
rs690466	ADAL	cis	Esophagus Muscularis	GTEx
rs690466	ADAL	cis	Adipose Subcutaneous	GTEx
rs690466	ADAL	cis	Temporal Cortex	GTEx
rs690466	ADAL	cis	Frontal Cortex	GTEx
rs690466	ADAL	cis	Cerebellum	GTEx
rs690466	ADAL	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43665000-43730000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43668000-43717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:43682800-43720800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:43682800-43727800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:43683400-43732200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:43685000-43720400	Strong transcription	Fetal Brain Female	brain
9	chr15:43686000-43717200	Strong transcription	Primary B cells from cord blood	blood
10	chr15:43686000-43717200	Strong transcription	Fetal Lung	lung
11	chr15:43686000-43720600	Strong transcription	Brain Germinal Matrix	brain
12	chr15:43686000-43727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr15:43686400-43715400	Strong transcription	Fetal Intestine Large	intestine
14	chr15:43686600-43715800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:43686600-43720400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr15:43686600-43720400	Strong transcription	Fetal Muscle Leg	muscle
17	chr15:43686600-43726000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr15:43686600-43733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:43686600-43733800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:43686800-43717800	Strong transcription	Primary T cells from cord blood	blood
21	chr15:43686800-43725400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:43686800-43725600	Strong transcription	Osteobl	bone
23	chr15:43686800-43733400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:43687000-43725400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:43687000-43732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr15:43687200-43733400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:43687600-43731600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
29	chr15:43693400-43714200	Strong transcription	Hela-S3	cervix
30	chr15:43699200-43715400	Strong transcription	Stomach Smooth Muscle	stomach
31	chr15:43699200-43720400	Strong transcription	Fetal Stomach	stomach
32	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr15:43702600-43712400	Weak transcription	Small Intestine	intestine
34	chr15:43703200-43739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:43703600-43717800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:43703600-43731400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr15:43703800-43715400	Strong transcription	Ovary	ovary
38	chr15:43703800-43715800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:43703800-43724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:43704000-43714400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:43704000-43718000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:43704000-43718000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr15:43704200-43715800	Strong transcription	Fetal Intestine Small	intestine
44	chr15:43704200-43717800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:43704200-43727200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:43705400-43720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:43705600-43712600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:43706200-43712400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr15:43706400-43712200	Weak transcription	NHEK	skin
50	chr15:43706600-43712600	Weak transcription	HepG2	liver

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