Variant report

Variant	rs2245908
Chromosome Location	chr15:43731454-43731455
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43731428-43731471	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr15:43731437-43731815	HepG2	liver:	n/a	chr15:43731684-43731695
3	CEBPB	chr15:43731375-43731835	HepG2	liver:	n/a	chr15:43731684-43731695

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43729891..43732204-chr15:43801594..43804283,2	K562	blood:

Variant related genes	Relation type
TP53BP1	TF binding region
ENSG00000166963	Chromatin interaction
ENSG00000067369	Chromatin interaction

Extended variants
information (count: 184 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:182)

rs_ID	r²[population]
rs101094	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1058298	0.84[ASN][1000 genomes]
rs1079309	0.98[ASN][1000 genomes]
rs1095386	0.82[AMR][1000 genomes]
rs11858152	0.80[AMR][1000 genomes]
rs11858640	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12323999	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12324572	0.84[AMR][1000 genomes]
rs12324584	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12437725	0.84[EUR][1000 genomes]
rs1549523	0.80[AMR][1000 genomes]
rs1549525	0.80[AMR][1000 genomes]
rs16957627	0.84[AMR][1000 genomes]
rs16957630	0.84[AMR][1000 genomes]
rs16957632	0.84[AMR][1000 genomes]
rs1814538	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869258	0.85[ASN][1000 genomes]
rs2242068	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2242069	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2243434	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2244981	0.98[ASN][1000 genomes]
rs2245054	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245176	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245664	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2245715	0.86[AMR][1000 genomes]
rs2245780	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245785	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2245790	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249952	0.97[ASN][1000 genomes]
rs2250743	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250750	0.94[ASN][1000 genomes]
rs2251538	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251844	0.87[AMR][1000 genomes]
rs2253268	0.92[ASN][1000 genomes]
rs2253708	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2253807	0.96[ASN][1000 genomes]
rs2254321	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2254325	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2255042	0.86[AMR][1000 genomes]
rs2255383	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255440	0.87[AMR][1000 genomes]
rs2256764	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2264049	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2264050	0.98[ASN][1000 genomes]
rs2264239	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2264248	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2264876	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278860	0.87[AMR][1000 genomes]
rs2412778	0.86[AMR][1000 genomes]
rs2412779	0.87[AMR][1000 genomes]
rs2412780	0.87[AMR][1000 genomes]
rs2412782	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2439831	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2439832	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2439833	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2439834	0.86[AMR][1000 genomes]
rs2439836	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2439841	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2439845	0.96[ASN][1000 genomes]
rs2439846	0.98[ASN][1000 genomes]
rs2439848	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2439850	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2444028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2444032	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2444037	0.85[ASN][1000 genomes]
rs2444244	0.84[AMR][1000 genomes]
rs2444247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444249	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2444250	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2444251	0.96[ASN][1000 genomes]
rs2467736	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2467737	0.99[ASN][1000 genomes]
rs2467738	0.99[ASN][1000 genomes]
rs2467739	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2467740	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2467741	0.96[ASN][1000 genomes]
rs2467742	0.98[ASN][1000 genomes]
rs2467743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2467745	0.95[ASN][1000 genomes]
rs2467746	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2470130	0.87[AMR][1000 genomes]
rs2470131	0.87[AMR][1000 genomes]
rs2584694	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2584702	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2584706	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2584725	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2584726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2584727	0.94[ASN][1000 genomes]
rs2601014	0.86[AMR][1000 genomes]
rs2602141	0.97[ASN][1000 genomes]
rs28415933	0.84[AMR][1000 genomes]
rs28461955	0.87[AMR][1000 genomes]
rs28628574	0.86[EUR][1000 genomes]
rs28649346	0.96[ASN][1000 genomes]
rs28666488	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28729853	0.87[AMR][1000 genomes]
rs2899082	0.87[AMR][1000 genomes]
rs2915788	0.83[AMR][1000 genomes]
rs2924368	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2924369	0.98[ASN][1000 genomes]
rs3213990	0.86[AMR][1000 genomes]
rs3213991	0.87[AMR][1000 genomes]
rs3742969	0.80[AMR][1000 genomes]
rs3742971	0.80[AMR][1000 genomes]
rs3809481	0.83[AMR][1000 genomes]
rs4075674	0.86[AMR][1000 genomes]
rs45585139	0.86[AMR][1000 genomes]
rs4583210	0.87[AMR][1000 genomes]
rs471229	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478104	0.80[AMR][1000 genomes]
rs483724	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs484029	0.80[AMR][1000 genomes]
rs486301	0.86[AMR][1000 genomes]
rs493377	0.98[ASN][1000 genomes]
rs495175	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs496584	0.84[AMR][1000 genomes]
rs498837	0.82[AMR][1000 genomes]
rs506120	0.86[ASN][1000 genomes]
rs509306	0.97[ASN][1000 genomes]
rs511673	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs518288	0.98[ASN][1000 genomes]
rs524417	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs526083	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs527921	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs528517	0.81[AMR][1000 genomes]
rs529611	0.86[ASN][1000 genomes]
rs536313	0.99[ASN][1000 genomes]
rs537115	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs540031	0.82[AMR][1000 genomes]
rs542898	0.96[ASN][1000 genomes]
rs544122	0.84[AMR][1000 genomes]
rs548704	0.92[ASN][1000 genomes]
rs550239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs558656	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs560191	0.98[ASN][1000 genomes]
rs561863	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs565007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6493081	0.83[AMR][1000 genomes]
rs6493082	0.83[AMR][1000 genomes]
rs6493085	0.86[AMR][1000 genomes]
rs6493087	0.84[AMR][1000 genomes]
rs6493088	0.86[AMR][1000 genomes]
rs689596	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs689616	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs689647	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs689693	0.87[ASN][1000 genomes]
rs689754	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs689767	0.97[ASN][1000 genomes]
rs689781	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689816	0.86[ASN][1000 genomes]
rs689826	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs689835	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs689883	0.84[AMR][1000 genomes]
rs690002	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs690012	0.96[ASN][1000 genomes]
rs690038	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs690263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs690276	0.94[ASN][1000 genomes]
rs690316	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690367	0.98[ASN][1000 genomes]
rs690436	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs690446	0.98[ASN][1000 genomes]
rs690466	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs690472	0.98[ASN][1000 genomes]
rs690512	0.96[ASN][1000 genomes]
rs693510	0.97[ASN][1000 genomes]
rs694725	0.98[ASN][1000 genomes]
rs694985	0.84[AMR][1000 genomes]
rs7163245	0.86[AMR][1000 genomes]
rs7165471	0.83[AMR][1000 genomes]
rs7170489	0.84[AMR][1000 genomes]
rs7173487	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7175434	0.80[AMR][1000 genomes]
rs7497780	0.87[ASN][1000 genomes]
rs8033714	0.83[AMR][1000 genomes]
rs8039638	0.84[AMR][1000 genomes]
rs8039671	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8041132	0.83[AMR][1000 genomes]
rs825739	0.80[AMR][1000 genomes]
rs933941	0.83[AMR][1000 genomes]
rs9920763	0.84[EUR][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
rs2245908	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs2245908	ADAL	cis	Artery Aorta	GTEx
rs2245908	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs2245908	ADAL	cis	Thyroid	GTEx
rs2245908	ADAL	cis	Artery Tibial	GTEx
rs2245908	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2245908	ADAL	cis	multi-tissue	Pritchard
rs2245908	ADAL	cis	Nerve Tibial	GTEx
rs2245908	CATSPER2	cis	Esophagus Mucosa	GTEx
rs2245908	ADAL	cis	Esophagus Muscularis	GTEx
rs2245908	ADAL	cis	lung	GTEx
rs2245908	ADAL	cis	Stomach	GTEx
rs2245908	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	chr15:43683400-43732200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:43686600-43733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:43686600-43733800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:43686800-43733400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:43687000-43732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:43687200-43733400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:43687600-43731600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:43689200-43737200	Weak transcription	Stomach Mucosa	stomach
11	chr15:43700000-43748400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:43703200-43739800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:43709400-43741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:43713600-43750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:43714000-43748200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:43714400-43733000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:43715000-43747600	Weak transcription	Right Ventricle	heart
18	chr15:43715600-43748200	Weak transcription	Colonic Mucosa	Colon
19	chr15:43719200-43732400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:43719400-43731800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr15:43719800-43732800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:43719800-43733000	Weak transcription	A549	lung
23	chr15:43721600-43731800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:43721600-43732200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:43721600-43740200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:43721800-43732000	Strong transcription	Primary T cells from cord blood	blood
27	chr15:43722000-43732400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:43722000-43740000	Strong transcription	Fetal Muscle Leg	muscle
29	chr15:43722600-43733400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:43724800-43738000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr15:43724800-43738600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr15:43725000-43732800	Weak transcription	HMEC	breast
33	chr15:43725000-43747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:43725000-43748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:43725000-43748800	Weak transcription	Esophagus	oesophagus
36	chr15:43725200-43732800	Weak transcription	Brain Substantia Nigra	brain
37	chr15:43725200-43737000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:43726200-43732000	Strong transcription	Osteobl	bone
39	chr15:43726200-43732200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:43726200-43732400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:43726400-43748600	Weak transcription	Psoas Muscle	Psoas
42	chr15:43726400-43769600	Weak transcription	Fetal Heart	heart
43	chr15:43726800-43732800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:43726800-43736000	Strong transcription	Fetal Intestine Small	intestine
45	chr15:43726800-43740000	Strong transcription	Fetal Stomach	stomach
46	chr15:43727200-43732800	Weak transcription	K562	blood
47	chr15:43728000-43731800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:43728000-43733200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr15:43728000-43733400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:43728000-43734000	Strong transcription	Primary T helper cells fromperipheralblood	blood

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