Variant report

Variant	rs2264239
Chromosome Location	chr15:43765533-43765534
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	chr15:43760610..43763780-chr15:43765222..43770259,5	K562	blood:

Extended variants
information (count: 173 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs101094	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1058298	0.85[ASN][1000 genomes]
rs1079309	1.00[ASN][1000 genomes]
rs11858640	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323999	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12324572	0.81[AMR][1000 genomes]
rs12324584	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12437725	0.88[EUR][1000 genomes]
rs16957627	0.81[AMR][1000 genomes]
rs16957630	0.81[AMR][1000 genomes]
rs16957632	0.81[AMR][1000 genomes]
rs1814538	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837959	0.90[AFR][1000 genomes]
rs1837960	0.88[AFR][1000 genomes]
rs1869258	0.87[ASN][1000 genomes]
rs2242068	0.87[AFR][1000 genomes]
rs2242069	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2243434	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2244981	1.00[ASN][1000 genomes]
rs2245054	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245176	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245664	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245715	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2245780	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245785	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245790	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245908	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249952	0.98[ASN][1000 genomes]
rs2250743	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2250750	0.97[ASN][1000 genomes]
rs2251538	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251844	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2253268	0.94[ASN][1000 genomes]
rs2253708	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2253807	0.96[ASN][1000 genomes]
rs2254321	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2254325	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255042	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2255051	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2255383	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255440	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2256764	0.86[AMR][1000 genomes]
rs2264049	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264050	1.00[ASN][1000 genomes]
rs2264248	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264876	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278860	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2412778	0.83[AMR][1000 genomes]
rs2412779	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2412780	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2412782	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2439831	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439832	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439833	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2439834	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2439836	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2439841	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2439845	0.96[ASN][1000 genomes]
rs2439846	1.00[ASN][1000 genomes]
rs2439848	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439850	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444028	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444029	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444032	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444036	0.88[AFR][1000 genomes]
rs2444037	0.86[ASN][1000 genomes]
rs2444244	0.87[AMR][1000 genomes]
rs2444247	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444249	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2444250	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444251	0.99[ASN][1000 genomes]
rs2467733	0.87[AFR][1000 genomes]
rs2467736	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467737	0.99[ASN][1000 genomes]
rs2467738	0.99[ASN][1000 genomes]
rs2467739	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467740	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467741	0.99[ASN][1000 genomes]
rs2467742	1.00[ASN][1000 genomes]
rs2467743	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467745	0.96[ASN][1000 genomes]
rs2467746	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2470130	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2470131	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2584694	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2584702	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2584706	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584725	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2584726	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2584727	0.95[ASN][1000 genomes]
rs2601014	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602141	0.98[ASN][1000 genomes]
rs28415933	0.81[AMR][1000 genomes]
rs28461955	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs28628574	0.90[EUR][1000 genomes]
rs28649346	0.99[ASN][1000 genomes]
rs28666488	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729853	0.84[AMR][1000 genomes]
rs2899082	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2915788	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2924368	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2924369	1.00[ASN][1000 genomes]
rs3097773	0.83[EUR][1000 genomes]
rs3213990	0.83[AMR][1000 genomes]
rs3213991	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4075674	0.83[AMR][1000 genomes]
rs45585139	0.82[AMR][1000 genomes]
rs4583210	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs471229	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475486	0.87[EUR][1000 genomes]
rs483724	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486301	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs493377	1.00[ASN][1000 genomes]
rs495175	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs496584	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs506120	0.88[ASN][1000 genomes]
rs509306	0.98[ASN][1000 genomes]
rs518288	1.00[ASN][1000 genomes]
rs524417	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526083	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs527921	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs529611	0.88[ASN][1000 genomes]
rs536313	0.99[ASN][1000 genomes]
rs537115	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs542898	0.97[ASN][1000 genomes]
rs544122	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs548704	0.94[ASN][1000 genomes]
rs550239	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs558656	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs560191	1.00[ASN][1000 genomes]
rs561863	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565007	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493085	0.83[AMR][1000 genomes]
rs6493087	0.81[AMR][1000 genomes]
rs6493088	0.83[AMR][1000 genomes]
rs689596	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689616	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689647	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689693	0.88[ASN][1000 genomes]
rs689754	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs689767	0.98[ASN][1000 genomes]
rs689781	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs689816	0.88[ASN][1000 genomes]
rs689826	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689835	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs689883	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs690002	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs690012	0.97[ASN][1000 genomes]
rs690038	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs690263	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs690276	0.94[ASN][1000 genomes]
rs690316	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690367	1.00[ASN][1000 genomes]
rs690436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690446	1.00[ASN][1000 genomes]
rs690466	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs690472	1.00[ASN][1000 genomes]
rs690512	0.97[ASN][1000 genomes]
rs693510	0.98[ASN][1000 genomes]
rs694725	1.00[ASN][1000 genomes]
rs694985	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7163245	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7170489	0.81[AMR][1000 genomes]
rs7173487	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7497780	0.89[ASN][1000 genomes]
rs8039638	0.81[AMR][1000 genomes]
rs8039671	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs884704	0.87[AFR][1000 genomes]
rs9920763	0.88[EUR][1000 genomes]
rs999047	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2264239	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2264239	ADAL	cis	lung	GTEx
rs2264239	ADAL	cis	Adipose Subcutaneous	GTEx
rs2264239	ADAL	cis	Esophagus Muscularis	GTEx
rs2264239	ADAL	cis	Artery Aorta	GTEx
rs2264239	ADAL	cis	multi-tissue	Pritchard
rs2264239	ADAL	cis	Thyroid	GTEx
rs2264239	ADAL	cis	Stomach	GTEx
rs2264239	CATSPER2	cis	Esophagus Mucosa	GTEx
rs2264239	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs2264239	ADAL	cis	Nerve Tibial	GTEx
rs2264239	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2264239	ADAL	cis	Artery Tibial	GTEx

Chromatin state (count:126 , 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	chr15:43734200-43780000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:43734200-43780200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:43741600-43774800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:43743800-43766800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:43743800-43770400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:43743800-43773400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:43744000-43770600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:43744000-43770600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:43744000-43773400	Strong transcription	Fetal Muscle Leg	muscle
13	chr15:43744000-43773600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:43744000-43783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:43744000-43784000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:43746400-43782800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:43746600-43773000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr15:43749000-43766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:43749200-43767200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:43749200-43769800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:43749200-43784600	Weak transcription	Stomach Mucosa	stomach
22	chr15:43749400-43766600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:43749400-43766600	Weak transcription	HepG2	liver
24	chr15:43749400-43783800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:43749400-43784400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr15:43751000-43765600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:43751000-43766000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:43751400-43775600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:43752400-43772400	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr15:43752600-43765600	Weak transcription	Pancreas	Pancrea
31	chr15:43752600-43767400	Weak transcription	Fetal Brain Male	brain
32	chr15:43752800-43766000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:43752800-43775200	Strong transcription	Placenta	Placenta
34	chr15:43754400-43770600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:43757400-43770800	Strong transcription	Brain Anterior Caudate	brain
36	chr15:43757400-43773400	Strong transcription	Primary T cells from cord blood	blood
37	chr15:43757800-43773400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr15:43757800-43773400	Strong transcription	Fetal Intestine Large	intestine
39	chr15:43758000-43767600	Weak transcription	NHEK	skin
40	chr15:43758000-43774800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:43758200-43773200	Strong transcription	Adipose Nuclei	Adipose
42	chr15:43758200-43773400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:43758400-43772400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:43758400-43773200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr15:43758400-43773400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:43758600-43767400	Weak transcription	A549	lung
47	chr15:43758600-43775800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr15:43759000-43772600	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:43759400-43773400	Strong transcription	Liver	Liver
50	chr15:43759600-43779800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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