Variant report

Variant	rs61390361
Chromosome Location	chr15:44159842-44159843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44158321..44161278-chr15:44164500..44166500,2	K562	blood:
2	chr15:44158756..44161490-chr15:44163226..44166726,5	K562	blood:
3	chr15:44153055..44155355-chr15:44158587..44161206,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11852767	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11856495	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11856795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440573	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12441984	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12442297	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12702	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13329084	0.95[EUR][1000 genomes]
rs16963953	0.81[AMR][1000 genomes]
rs16965120	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16977724	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16977798	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1965794	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1965795	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2228368	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28413704	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28413881	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28437196	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28476182	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28509275	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28513374	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28519630	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28524541	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28531819	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28564774	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28583806	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28590651	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28636829	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28674750	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28678901	0.81[AMR][1000 genomes]
rs28679673	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28684672	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28687459	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28696802	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28699233	0.95[EUR][1000 genomes]
rs28707214	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28780699	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28781888	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28823973	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28858500	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28866846	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2955969	0.85[ASN][1000 genomes]
rs3736180	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742982	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3759790	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759791	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3784275	0.88[EUR][1000 genomes]
rs3816792	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825783	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4597285	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs524908	0.88[ASN][1000 genomes]
rs533143	0.86[ASN][1000 genomes]
rs56008017	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56909447	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs575082	0.83[ASN][1000 genomes]
rs60883262	0.81[AMR][1000 genomes]
rs667476	0.93[ASN][1000 genomes]
rs67541383	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68079546	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs688009	0.95[ASN][1000 genomes]
rs693919	0.83[ASN][1000 genomes]
rs694461	0.83[ASN][1000 genomes]
rs7169322	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7169382	0.83[ASN][1000 genomes]
rs7170751	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7179388	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7181039	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7183809	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8023508	0.89[ASN][1000 genomes]
rs8032649	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8040839	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9944216	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989313	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs61390361	ADAL	cis	Thyroid	GTEx
rs61390361	ADAL	cis	Esophagus Muscularis	GTEx
rs61390361	ADAL	cis	Artery Tibial	GTEx
rs61390361	ADAL	cis	Skin Sun Exposed Lower leg	GTEx
rs61390361	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs61390361	ADAL	cis	Adipose Subcutaneous	GTEx
rs61390361	ADAL	cis	Nerve Tibial	GTEx
rs61390361	CKMT1A	cis	Esophagus Mucosa	GTEx
rs61390361	ADAL	cis	lung	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44119600-44166000	Weak transcription	Spleen	Spleen
2	chr15:44119600-44169400	Weak transcription	Fetal Intestine Large	intestine
3	chr15:44119600-44172800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:44119600-44181800	Weak transcription	Small Intestine	intestine
5	chr15:44119600-44183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:44119800-44166400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:44120600-44161200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:44120600-44164600	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:44120600-44164600	Weak transcription	NHEK	skin
10	chr15:44120600-44165800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:44121000-44177600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:44121400-44160600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:44124000-44166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:44128200-44167800	Weak transcription	Ovary	ovary
15	chr15:44128600-44167800	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:44129200-44161200	Weak transcription	Brain Substantia Nigra	brain
17	chr15:44131200-44167600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:44133000-44166000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:44137800-44160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:44142200-44163800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:44142200-44164600	Weak transcription	Brain Angular Gyrus	brain
22	chr15:44144000-44160400	Weak transcription	HSMM	muscle
23	chr15:44144800-44181000	Weak transcription	HepG2	liver
24	chr15:44146600-44165400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr15:44146600-44165800	Weak transcription	Osteobl	bone
26	chr15:44146800-44181600	Weak transcription	Gastric	stomach
27	chr15:44147600-44172000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:44147800-44160000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:44148000-44160400	Weak transcription	Liver	Liver
30	chr15:44148200-44166000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:44149600-44166200	Weak transcription	A549	lung
32	chr15:44150600-44174600	Strong transcription	Dnd41	blood
33	chr15:44151200-44161600	Weak transcription	Fetal Heart	heart
34	chr15:44151600-44171200	Weak transcription	Placenta	Placenta
35	chr15:44151600-44181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:44152000-44161000	Weak transcription	NH-A	brain
37	chr15:44152000-44172800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:44152200-44161400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr15:44152200-44166400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:44152400-44160400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:44152400-44160800	Weak transcription	Esophagus	oesophagus
42	chr15:44152400-44161200	Weak transcription	Left Ventricle	heart
43	chr15:44152400-44164600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr15:44152600-44161400	Weak transcription	HMEC	breast
45	chr15:44152600-44164400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:44152600-44166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:44152600-44167800	Weak transcription	Aorta	Aorta
48	chr15:44152600-44168000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:44152600-44168600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr15:44152600-44169600	Weak transcription	Lung	lung

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