Variant report

Variant	rs101094
Chromosome Location	chr15:43787322-43787323
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	CEBPB	chr15:43787320-43787413	K562	blood:	n/a	chr15:43787339-43787350
2	CEBPB	chr15:43787295-43787496	HepG2	liver:	n/a	chr15:43787339-43787350

No.	Distal block	Cell Line	Cell type
1	chr15:43785564..43788713-chr15:43788914..43791066,4	K562	blood:
2	15:43785993-43792489..15:44080886-44089111	Hela-S3	cervix:
3	chr15:43784031..43792065-chr15:43801022..43804774,10	K562	blood:

Variant related genes	Relation type
TP53BP1	TF binding region
ENSG00000166963	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000242028	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs1058298	0.85[ASN][1000 genomes]
rs1079309	1.00[ASN][1000 genomes]
rs11858640	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12323999	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12324584	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12437725	0.86[EUR][1000 genomes]
rs1814538	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869258	0.87[ASN][1000 genomes]
rs2242069	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2243434	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2244981	1.00[ASN][1000 genomes]
rs2245054	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245176	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245664	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2245715	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2245780	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245785	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245790	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245908	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2249952	0.98[ASN][1000 genomes]
rs2250743	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2250750	0.97[ASN][1000 genomes]
rs2251538	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251844	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2253268	0.94[ASN][1000 genomes]
rs2253708	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2253807	0.96[ASN][1000 genomes]
rs2254321	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2254325	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255042	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2255051	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2255383	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255440	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2256764	0.82[AMR][1000 genomes]
rs2264049	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264050	1.00[ASN][1000 genomes]
rs2264239	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2264248	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264876	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278860	0.81[AMR][1000 genomes]
rs2412779	0.81[AMR][1000 genomes]
rs2412780	0.81[AMR][1000 genomes]
rs2412782	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2439831	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439832	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439833	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2439834	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2439836	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2439841	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2439845	0.96[ASN][1000 genomes]
rs2439846	1.00[ASN][1000 genomes]
rs2439848	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439850	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444028	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444029	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444032	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444037	0.86[ASN][1000 genomes]
rs2444244	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2444247	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2444249	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2444250	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2444251	0.99[ASN][1000 genomes]
rs2467736	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467737	0.99[ASN][1000 genomes]
rs2467738	0.99[ASN][1000 genomes]
rs2467739	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467740	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467741	0.99[ASN][1000 genomes]
rs2467742	1.00[ASN][1000 genomes]
rs2467743	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467745	0.96[ASN][1000 genomes]
rs2467746	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2470130	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2470131	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2584694	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2584702	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2584706	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2584725	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2584726	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2584727	0.95[ASN][1000 genomes]
rs2601014	0.86[AMR][1000 genomes]
rs2602141	0.98[ASN][1000 genomes]
rs28461955	0.81[AMR][1000 genomes]
rs28628574	0.93[EUR][1000 genomes]
rs28649346	0.99[ASN][1000 genomes]
rs28666488	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729853	0.81[AMR][1000 genomes]
rs2899082	0.81[AMR][1000 genomes]
rs2915788	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2924368	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2924369	1.00[ASN][1000 genomes]
rs3097773	0.86[EUR][1000 genomes]
rs3213991	0.81[AMR][1000 genomes]
rs4583210	0.81[AMR][1000 genomes]
rs471229	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs475486	0.90[EUR][1000 genomes]
rs483724	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486301	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs493377	1.00[ASN][1000 genomes]
rs495175	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs496584	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs506120	0.88[ASN][1000 genomes]
rs509306	0.98[ASN][1000 genomes]
rs518288	1.00[ASN][1000 genomes]
rs524417	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526083	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs527921	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs529611	0.88[ASN][1000 genomes]
rs536313	0.99[ASN][1000 genomes]
rs537115	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs542898	0.97[ASN][1000 genomes]
rs544122	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs548704	0.94[ASN][1000 genomes]
rs550239	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs558656	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs560191	1.00[ASN][1000 genomes]
rs561863	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56397895	0.82[EUR][1000 genomes]
rs565007	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs689596	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689616	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689647	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs689693	0.88[ASN][1000 genomes]
rs689754	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs689767	0.98[ASN][1000 genomes]
rs689781	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs689816	0.88[ASN][1000 genomes]
rs689826	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689835	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs689883	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs690002	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs690012	0.97[ASN][1000 genomes]
rs690038	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs690263	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs690276	0.94[ASN][1000 genomes]
rs690316	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs690367	1.00[ASN][1000 genomes]
rs690436	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690446	1.00[ASN][1000 genomes]
rs690466	0.98[AFR][1000 genomes];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	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7173487	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7497780	0.89[ASN][1000 genomes]
rs8039671	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9920763	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs101094	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs101094	ADAL	cis	Artery Tibial	GTEx
rs101094	ADAL	cis	Artery Aorta	GTEx
rs101094	ADAL	cis	Adipose Subcutaneous	GTEx
rs101094	CKMT1A	cis	Esophagus Mucosa	GTEx
rs101094	ADAL	cis	multi-tissue	Pritchard
rs101094	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs101094	ADAL	cis	lung	GTEx
rs101094	ADAL	cis	Stomach	GTEx
rs101094	ADAL	cis	Thyroid	GTEx
rs101094	ADAL	cis	Esophagus Muscularis	GTEx
rs101094	ADAL	cis	Nerve Tibial	GTEx
rs101094	CATSPER2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43786000-43801800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:43786200-43787400	Weak transcription	Placenta	Placenta
3	chr15:43786200-43788600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:43786200-43789000	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:43786200-43789400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:43786200-43791200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:43786200-43792200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:43786200-43792200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:43786200-43797400	Weak transcription	HSMM	muscle
10	chr15:43786200-43797800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:43786200-43798000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr15:43786200-43801200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:43786200-43801200	Weak transcription	Ovary	ovary
14	chr15:43786400-43798000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:43786400-43801000	Weak transcription	Dnd41	blood
16	chr15:43786600-43788000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:43786600-43797600	Weak transcription	K562	blood

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