Variant report

Variant	rs11856495
Chromosome Location	chr15:44142729-44142730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11852767	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11852840	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11856795	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12440573	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12441861	0.80[EUR][1000 genomes]
rs12441984	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12442129	0.80[EUR][1000 genomes]
rs12442297	0.96[EUR][1000 genomes]
rs12702	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13329084	0.98[EUR][1000 genomes]
rs13380397	0.80[EUR][1000 genomes]
rs16963953	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16965120	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16977724	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16977798	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1965794	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1965795	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228368	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2788	0.80[EUR][1000 genomes]
rs28377539	0.82[ASN][1000 genomes]
rs28413704	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28413881	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28437196	0.86[EUR][1000 genomes]
rs28476182	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28509275	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28513374	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28519630	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28524541	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28531819	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28546844	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28564774	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28578398	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28583806	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28590651	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28636829	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28674750	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28678901	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28679673	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28684672	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28687459	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28696802	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28699233	0.98[EUR][1000 genomes]
rs28707214	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28780699	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28781888	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28823973	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28858500	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28866846	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28891769	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955969	0.93[ASN][1000 genomes]
rs3736180	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742982	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3759790	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759791	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3784275	0.92[EUR][1000 genomes]
rs3816792	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825783	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4597285	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs524908	0.85[ASN][1000 genomes]
rs533143	0.83[ASN][1000 genomes]
rs56008017	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56909447	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs575082	0.91[ASN][1000 genomes]
rs60883262	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61390361	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62018952	0.86[ASN][1000 genomes]
rs67541383	0.95[EUR][1000 genomes]
rs68079546	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688009	0.89[ASN][1000 genomes]
rs693919	0.91[ASN][1000 genomes]
rs694461	0.91[ASN][1000 genomes]
rs7169322	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7169382	0.91[ASN][1000 genomes]
rs7169988	0.80[EUR][1000 genomes]
rs7170167	0.80[EUR][1000 genomes]
rs7170751	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7175032	0.80[EUR][1000 genomes]
rs7179388	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7180818	0.81[ASN][1000 genomes]
rs7181039	0.96[EUR][1000 genomes]
rs7183809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8023508	0.83[ASN][1000 genomes]
rs8032649	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8040839	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9944216	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9989313	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
7	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
8	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
10	nsv511550	chr15:44120559-44148142	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
11	nsv569277	chr15:44137753-44147265	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11856495	ADAL	cis	Nerve Tibial	GTEx
rs11856495	ADAL	cis	Thyroid	GTEx
rs11856495	ADAL	cis	Adipose Subcutaneous	GTEx
rs11856495	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs11856495	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs11856495	ADAL	cis	Artery Aorta	GTEx
rs11856495	ADAL	cis	lung	GTEx
rs11856495	ADAL	cis	Artery Tibial	GTEx
rs11856495	ADAL	cis	Esophagus Muscularis	GTEx
rs11856495	CKMT1A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44117400-44150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:44119600-44143200	Weak transcription	Aorta	Aorta
3	chr15:44119600-44143400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:44119600-44150600	Weak transcription	Esophagus	oesophagus
5	chr15:44119600-44151000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:44119600-44156400	Weak transcription	Pancreas	Pancrea
7	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
8	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
9	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
11	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:44119800-44144400	Weak transcription	Right Ventricle	heart
13	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:44120200-44150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:44120400-44143000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:44120600-44143200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr15:44120600-44143200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr15:44120600-44149200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:44120600-44150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:44120600-44150800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr15:44120600-44156600	Weak transcription	Fetal Brain Male	brain
22	chr15:44120600-44157800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:44120600-44158600	Weak transcription	Colonic Mucosa	Colon
24	chr15:44120600-44159600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:44120600-44161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:44120600-44164600	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:44120600-44164600	Weak transcription	NHEK	skin
28	chr15:44120600-44165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:44121000-44143000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:44121000-44143200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr15:44121000-44143200	Weak transcription	HSMM	muscle
32	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:44121400-44159600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:44121400-44160600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:44121600-44150800	Weak transcription	Fetal Heart	heart
36	chr15:44121600-44151200	Weak transcription	NHLF	lung
37	chr15:44122000-44157000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr15:44122400-44143200	Weak transcription	Placenta	Placenta
39	chr15:44124000-44166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:44124600-44150800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:44128200-44151800	Weak transcription	Fetal Lung	lung
42	chr15:44128200-44151800	Weak transcription	Left Ventricle	heart
43	chr15:44128200-44167800	Weak transcription	Ovary	ovary
44	chr15:44128400-44145200	Weak transcription	Gastric	stomach
45	chr15:44128400-44150800	Weak transcription	Adipose Nuclei	Adipose
46	chr15:44128600-44143400	Weak transcription	K562	blood
47	chr15:44128600-44167800	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:44129200-44161200	Weak transcription	Brain Substantia Nigra	brain
49	chr15:44129800-44150800	Weak transcription	Primary B cells from cord blood	blood
50	chr15:44131200-44167600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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