Variant report

Variant	rs2245785
Chromosome Location	chr15:43732713-43732714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43732687..43733352-chr15:43806192..43806900,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs101094	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1079309	0.92[ASN][1000 genomes]
rs11858640	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12323999	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12324584	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1814538	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242069	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2243434	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2244981	0.92[ASN][1000 genomes]
rs2245054	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245176	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245664	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2245780	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245790	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245908	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2249952	0.91[ASN][1000 genomes]
rs2250743	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2250750	0.92[ASN][1000 genomes]
rs2251538	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2253268	0.86[ASN][1000 genomes]
rs2253708	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2253807	0.90[ASN][1000 genomes]
rs2254321	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2254325	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255383	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2256764	0.81[AMR][1000 genomes]
rs2264049	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2264050	0.92[ASN][1000 genomes]
rs2264239	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2264248	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2264876	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278860	0.83[AMR][1000 genomes]
rs2412778	0.81[AMR][1000 genomes]
rs2412779	0.83[AMR][1000 genomes]
rs2412780	0.83[AMR][1000 genomes]
rs2412782	0.84[AMR][1000 genomes]
rs2439831	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2439832	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2439833	0.84[ASN][1000 genomes]
rs2439836	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2439841	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2439845	0.92[ASN][1000 genomes]
rs2439846	0.92[ASN][1000 genomes]
rs2439848	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2439850	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2444028	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2444029	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2444032	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2444247	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2444249	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2444250	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2444251	0.91[ASN][1000 genomes]
rs2467736	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2467737	0.92[ASN][1000 genomes]
rs2467738	0.92[ASN][1000 genomes]
rs2467739	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2467740	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2467741	0.91[ASN][1000 genomes]
rs2467742	0.92[ASN][1000 genomes]
rs2467743	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2467745	0.89[ASN][1000 genomes]
rs2467746	0.81[AMR][1000 genomes]
rs2584694	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2584702	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2584706	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2584725	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2584726	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2584727	0.88[ASN][1000 genomes]
rs2602141	0.91[ASN][1000 genomes]
rs28461955	0.83[AMR][1000 genomes]
rs28649346	0.90[ASN][1000 genomes]
rs28666488	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28729853	0.83[AMR][1000 genomes]
rs2899082	0.83[AMR][1000 genomes]
rs2924368	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2924369	0.92[ASN][1000 genomes]
rs3213990	0.81[AMR][1000 genomes]
rs3213991	0.83[AMR][1000 genomes]
rs4075674	0.81[AMR][1000 genomes]
rs4583210	0.83[AMR][1000 genomes]
rs471229	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs483724	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs493377	0.92[ASN][1000 genomes]
rs495175	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs506120	0.80[ASN][1000 genomes]
rs509306	0.91[ASN][1000 genomes]
rs518288	0.92[ASN][1000 genomes]
rs524417	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs526083	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs527921	0.81[AMR][1000 genomes]
rs529611	0.81[ASN][1000 genomes]
rs536313	0.92[ASN][1000 genomes]
rs537115	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs542898	0.90[ASN][1000 genomes]
rs544122	0.82[AMR][1000 genomes]
rs548704	0.86[ASN][1000 genomes]
rs550239	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs558656	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs560191	0.92[ASN][1000 genomes]
rs561863	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs565007	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6493085	0.81[AMR][1000 genomes]
rs6493088	0.81[AMR][1000 genomes]
rs689596	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689616	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689647	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689693	0.84[ASN][1000 genomes]
rs689754	0.85[AMR][1000 genomes]
rs689767	0.91[ASN][1000 genomes]
rs689781	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs689816	0.82[ASN][1000 genomes]
rs689826	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689835	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs690002	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs690012	0.90[ASN][1000 genomes]
rs690038	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs690263	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs690276	0.88[ASN][1000 genomes]
rs690316	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs690367	0.92[ASN][1000 genomes]
rs690436	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs690446	0.92[ASN][1000 genomes]
rs690466	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs690472	0.92[ASN][1000 genomes]
rs690512	0.90[ASN][1000 genomes]
rs693510	0.91[ASN][1000 genomes]
rs694725	0.92[ASN][1000 genomes]
rs7163245	0.81[AMR][1000 genomes]
rs7497780	0.84[ASN][1000 genomes]
rs8039671	0.84[AMR][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:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2245785	ADAL	cis	Stomach	GTEx
rs2245785	ADAL	cis	Artery Aorta	GTEx
rs2245785	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs2245785	ADAL	cis	Esophagus Muscularis	GTEx
rs2245785	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2245785	ADAL	cis	Esophagus Mucosa	GTEx
rs2245785	ADAL	cis	lung	GTEx
rs2245785	CATSPER2	cis	Esophagus Mucosa	GTEx
rs2245785	ADAL	cis	Thyroid	GTEx
rs2245785	ADAL	cis	Artery Tibial	GTEx
rs2245785	ADAL	cis	Nerve Tibial	GTEx
rs2245785	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2245785	ADAL	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43668200-43732800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:43675600-43744400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:43686600-43733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:43686600-43733800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:43686800-43733400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:43687200-43733400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
8	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:43703200-43739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:43709400-43741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:43713600-43750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:43714000-43748200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:43714400-43733000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:43715000-43747600	Weak transcription	Right Ventricle	heart
15	chr15:43715600-43748200	Weak transcription	Colonic Mucosa	Colon
16	chr15:43719800-43732800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:43719800-43733000	Weak transcription	A549	lung
18	chr15:43721600-43740200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:43722000-43740000	Strong transcription	Fetal Muscle Leg	muscle
20	chr15:43722600-43733400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr15:43724800-43738000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:43724800-43738600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:43725000-43732800	Weak transcription	HMEC	breast
24	chr15:43725000-43747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:43725000-43748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:43725000-43748800	Weak transcription	Esophagus	oesophagus
27	chr15:43725200-43732800	Weak transcription	Brain Substantia Nigra	brain
28	chr15:43725200-43737000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:43726400-43748600	Weak transcription	Psoas Muscle	Psoas
30	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
31	chr15:43726800-43732800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:43726800-43736000	Strong transcription	Fetal Intestine Small	intestine
33	chr15:43726800-43740000	Strong transcription	Fetal Stomach	stomach
34	chr15:43727200-43732800	Weak transcription	K562	blood
35	chr15:43728000-43733200	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr15:43728000-43733400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:43728000-43734000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:43728200-43732800	Strong transcription	Left Ventricle	heart
39	chr15:43728200-43740000	Strong transcription	Fetal Intestine Large	intestine
40	chr15:43728400-43733800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr15:43728400-43733800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:43728800-43733400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:43729000-43738600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr15:43729400-43733200	Strong transcription	Dnd41	blood
45	chr15:43730200-43733800	Strong transcription	Fetal Lung	lung
46	chr15:43730400-43732800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr15:43730400-43732800	Weak transcription	Brain Angular Gyrus	brain
48	chr15:43730400-43732800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:43730400-43733000	Weak transcription	HSMM	muscle
50	chr15:43730400-43738600	Weak transcription	Gastric	stomach

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