Variant report

Variant	rs2918945
Chromosome Location	chr15:44195224-44195225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44185248..44189822-chr15:44193811..44195914,4	K562	blood:
2	chr15:44190087..44193923-chr15:44195170..44198299,3	K562	blood:
3	chr15:44194479..44197065-chr15:44202126..44203842,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1077421	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs11070414	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1545182	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16945686	0.80[CHD][hapmap]
rs2016837	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.89[LWK][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2016840	0.85[JPT][hapmap]
rs2306674	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2412822	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2412823	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs28548859	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2918946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3087657	0.85[ASW][hapmap]
rs3742981	0.84[MEX][hapmap]
rs4544217	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs472797	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs530074	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563940	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs589649	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs597705	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs638224	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs663214	0.85[ASW][hapmap]
rs678513	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.95[YRI][hapmap]
rs7167976	0.82[TSI][hapmap]
rs747714	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8023508	0.80[MEX][hapmap]
rs8042714	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs920339	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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	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
6	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2918945	ADAL	cis	Adipose Subcutaneous	GTEx
rs2918945	ADAL	cis	Nerve Tibial	GTEx
rs2918945	ADAL	cis	Esophagus Muscularis	GTEx
rs2918945	TGM5	cis	Lymphoblastoid	GTEx
rs2918945	TGM5	cis	lymphoblastoid	seeQTL
rs2918945	CKMT1A	cis	Esophagus Mucosa	GTEx
rs2918945	ADAL	cis	Thyroid	GTEx
rs2918945	ADAL	cis	Artery Tibial	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
2	chr15:44166800-44196200	Weak transcription	Osteobl	bone
3	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:44174200-44195800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:44174200-44195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:44178200-44197800	Weak transcription	NHLF	lung
9	chr15:44180000-44195800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:44183400-44197800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:44186200-44197800	Weak transcription	NHEK	skin
12	chr15:44187000-44203600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:44187600-44196000	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:44187800-44195800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:44189200-44197800	Weak transcription	NH-A	brain
16	chr15:44191000-44197600	Weak transcription	Brain Germinal Matrix	brain
17	chr15:44191200-44207400	Weak transcription	Ovary	ovary
18	chr15:44192200-44196200	Weak transcription	Right Ventricle	heart
19	chr15:44192200-44203600	Weak transcription	Left Ventricle	heart
20	chr15:44192400-44203200	Weak transcription	Right Atrium	heart
21	chr15:44192600-44195800	Weak transcription	Hela-S3	cervix
22	chr15:44192600-44196000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:44192600-44196200	Genic enhancers	Brain Hippocampus Middle	brain
24	chr15:44192800-44195600	Weak transcription	A549	lung
25	chr15:44192800-44196200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:44193000-44196200	Weak transcription	HepG2	liver
27	chr15:44193400-44195800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:44193600-44195600	Strong transcription	Fetal Brain Female	brain
29	chr15:44193800-44195800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:44193800-44195800	Weak transcription	K562	blood
31	chr15:44193800-44196000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:44194000-44195800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:44194000-44195800	Weak transcription	Fetal Stomach	stomach
34	chr15:44194000-44196000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:44194000-44197800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:44194000-44198000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:44194200-44196000	Weak transcription	Brain Angular Gyrus	brain
38	chr15:44194200-44196200	Weak transcription	Brain Anterior Caudate	brain
39	chr15:44194200-44196400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:44194400-44195600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:44194400-44195800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr15:44194400-44195800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:44194400-44195800	Strong transcription	Brain Cingulate Gyrus	brain
44	chr15:44194400-44196400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:44194400-44202000	Weak transcription	NHDF-Ad	bronchial
46	chr15:44194400-44204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:44194600-44195800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:44194600-44195800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr15:44194600-44197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:44194600-44203000	Weak transcription	HMEC	breast

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