Variant report

Variant	rs2444036
Chromosome Location	chr15:43694108-43694109
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1095386	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11070399	0.89[ASN][1000 genomes]
rs1123947	0.89[ASN][1000 genomes]
rs1133395	0.89[ASN][1000 genomes]
rs11637572	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs11858152	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12101673	0.87[ASN][1000 genomes]
rs12102205	0.89[ASN][1000 genomes]
rs12323999	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12324572	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12324584	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12905772	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1549523	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1549525	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs16957627	0.89[ASN][1000 genomes]
rs16957630	0.89[ASN][1000 genomes]
rs16957632	0.89[ASN][1000 genomes]
rs1837959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1837960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012467	0.98[ASN][1000 genomes]
rs2242068	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2243434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2244746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2245664	0.86[AFR][1000 genomes]
rs2250743	0.86[AFR][1000 genomes]
rs2253708	0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs2254321	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2254325	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2264239	0.88[AFR][1000 genomes]
rs2278856	0.89[ASN][1000 genomes]
rs2278857	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2278859	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.89[ASN][1000 genomes]
rs2278860	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2412778	0.89[ASN][1000 genomes]
rs2412779	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2412780	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2412781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2412782	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2439831	0.91[YRI][hapmap];0.89[AFR][1000 genomes]
rs2439841	0.80[AMR][1000 genomes]
rs2444037	0.83[ASN][1000 genomes]
rs2467733	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584700	0.86[ASN][1000 genomes]
rs2584701	0.97[ASN][1000 genomes]
rs2584702	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2584703	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28415933	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28461955	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28653441	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28702649	0.89[ASN][1000 genomes]
rs28729853	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2899082	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3213990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[ASN][1000 genomes]
rs3213991	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3742969	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3742971	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3809482	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4075674	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs4296223	1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4401024	0.88[ASN][1000 genomes]
rs4547312	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4583210	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs478028	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs478104	0.91[CHB][hapmap];0.81[JPT][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs483724	0.84[AFR][1000 genomes]
rs484029	1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.88[ASN][1000 genomes]
rs484846	0.84[ASN][1000 genomes]
rs488756	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.87[ASN][1000 genomes]
rs498837	0.83[ASN][1000 genomes]
rs499035	0.84[ASN][1000 genomes]
rs507178	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs510108	0.84[ASN][1000 genomes]
rs511673	0.88[ASN][1000 genomes]
rs512628	0.88[ASN][1000 genomes]
rs524527	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs526450	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs528517	0.87[ASN][1000 genomes]
rs540031	0.87[ASN][1000 genomes]
rs552701	0.87[ASN][1000 genomes]
rs558656	0.80[AMR][1000 genomes]
rs573615	1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs576557	0.81[ASN][1000 genomes]
rs6493081	0.88[ASN][1000 genomes]
rs6493082	0.89[ASN][1000 genomes]
rs6493083	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6493084	0.89[ASN][1000 genomes]
rs6493085	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs6493086	0.89[ASN][1000 genomes]
rs6493087	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6493088	0.92[ASN][1000 genomes]
rs689754	0.81[YRI][hapmap]
rs690038	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs690263	0.81[EUR][1000 genomes]
rs690436	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs7163245	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7163288	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7165471	0.89[ASN][1000 genomes]
rs7166812	0.89[ASN][1000 genomes]
rs7167882	0.97[ASN][1000 genomes]
rs7168940	0.87[ASN][1000 genomes]
rs7170152	0.88[ASN][1000 genomes]
rs7170489	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs7172374	0.82[ASN][1000 genomes]
rs7175434	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7176849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033714	0.85[ASN][1000 genomes]
rs8039638	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8041132	0.89[ASN][1000 genomes]
rs8042688	0.89[ASN][1000 genomes]
rs825739	0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap]
rs825740	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs884704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs933941	0.89[ASN][1000 genomes]
rs956391	0.87[ASN][1000 genomes]
rs9920879	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs999026	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs999047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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:14)

SNP	Gene	Cis/trans	Tissue	Source
rs2444036	ADAL	cis	multi-tissue	Pritchard
rs2444036	ADAL	cis	Thyroid	GTEx
rs2444036	CATSPER2	cis	Esophagus Mucosa	GTEx
rs2444036	ADAL	cis	lung	GTEx
rs2444036	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2444036	TGM5	cis	multi-tissue	Pritchard
rs2444036	ADAL	cis	Esophagus Muscularis	GTEx
rs2444036	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2444036	ADAL	cis	Nerve Tibial	GTEx
rs2444036	ADAL	cis	Artery Tibial	GTEx
rs2444036	ADAL	cis	Adipose Subcutaneous	GTEx
rs2444036	ADAL	cis	Artery Aorta	GTEx
rs2444036	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs2444036	TGM5	cis	Lymphoblastoid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43664600-43695600	Weak transcription	Fetal Heart	heart
2	chr15:43665000-43730000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:43668000-43717800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:43668200-43702200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:43670600-43703200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr15:43676800-43695600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:43681400-43702200	Strong transcription	Fetal Intestine Small	intestine
10	chr15:43682800-43698600	Strong transcription	Fetal Stomach	stomach
11	chr15:43682800-43720800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:43682800-43727800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:43683200-43709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:43683400-43732200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:43684800-43694400	Strong transcription	Lung	lung
16	chr15:43684800-43705000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:43684800-43709000	Strong transcription	Dnd41	blood
18	chr15:43685000-43701800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr15:43685000-43702200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr15:43685000-43709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:43685000-43709000	Strong transcription	Left Ventricle	heart
22	chr15:43685000-43720400	Strong transcription	Fetal Brain Female	brain
23	chr15:43685400-43707800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:43685800-43710200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:43686000-43701000	Strong transcription	K562	blood
26	chr15:43686000-43702800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:43686000-43703400	Strong transcription	Adipose Nuclei	Adipose
28	chr15:43686000-43717200	Strong transcription	Primary B cells from cord blood	blood
29	chr15:43686000-43717200	Strong transcription	Fetal Lung	lung
30	chr15:43686000-43720600	Strong transcription	Brain Germinal Matrix	brain
31	chr15:43686000-43727000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:43686400-43698400	Strong transcription	Liver	Liver
33	chr15:43686400-43702200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr15:43686400-43702200	Strong transcription	Gastric	stomach
35	chr15:43686400-43709200	Strong transcription	Fetal Thymus	thymus
36	chr15:43686400-43710000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr15:43686400-43711200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr15:43686400-43715400	Strong transcription	Fetal Intestine Large	intestine
39	chr15:43686600-43698600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:43686600-43702800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:43686600-43703000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:43686600-43703200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:43686600-43705600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr15:43686600-43705600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr15:43686600-43708800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:43686600-43709200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr15:43686600-43715800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:43686600-43720400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr15:43686600-43720400	Strong transcription	Fetal Muscle Leg	muscle
50	chr15:43686600-43726000	Strong transcription	Primary B cells from peripheral blood	blood

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