Variant report

Variant	rs530074
Chromosome Location	chr15:44206520-44206521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44196106..44199754-chr15:44205350..44208904,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1077421	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11070414	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11637468	0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1545182	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16944774	0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs16945686	0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs16950215	0.83[JPT][hapmap]
rs2016837	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2412822	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28377221	0.88[ASN][1000 genomes]
rs28438984	0.99[ASN][1000 genomes]
rs28548859	0.95[EUR][1000 genomes]
rs28599486	0.91[ASN][1000 genomes]
rs28706414	0.92[ASN][1000 genomes]
rs2918945	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2918946	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742981	0.88[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3850777	0.83[JPT][hapmap]
rs4544217	0.95[EUR][1000 genomes]
rs472797	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55927923	0.89[ASN][1000 genomes]
rs563940	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs589649	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs597705	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60484809	1.00[ASN][1000 genomes]
rs638224	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs678513	1.00[CEU][hapmap]
rs747714	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8042714	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs920339	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9806129	0.91[ASN][1000 genomes]
rs9920164	0.88[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
rs530074	ADAL	cis	Nerve Tibial	GTEx
rs530074	ADAL	cis	Artery Tibial	GTEx
rs530074	ADAL	cis	Thyroid	GTEx
rs530074	CKMT1A	cis	Esophagus Mucosa	GTEx
rs530074	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs530074	ADAL	cis	Adipose Subcutaneous	GTEx
rs530074	ADAL	cis	Esophagus Muscularis	GTEx
rs530074	TGM5	cis	Lymphoblastoid	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:44191200-44207400	Weak transcription	Ovary	ovary
5	chr15:44194600-44208200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr15:44196400-44207600	Weak transcription	Gastric	stomach
7	chr15:44196400-44208000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:44196400-44212200	Weak transcription	Fetal Stomach	stomach
9	chr15:44196400-44216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:44196600-44208200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:44198000-44211600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:44198200-44217600	Weak transcription	Brain Germinal Matrix	brain
13	chr15:44198400-44208000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:44198800-44207600	Weak transcription	Fetal Brain Female	brain
15	chr15:44200000-44208000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:44201200-44208000	Weak transcription	Fetal Muscle Leg	muscle
17	chr15:44201400-44209000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:44201800-44208400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:44202000-44206800	Enhancers	NHDF-Ad	bronchial
20	chr15:44202400-44206800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:44203000-44206600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr15:44203000-44206800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:44203000-44206800	Enhancers	NH-A	brain
24	chr15:44203200-44206800	Enhancers	NHEK	skin
25	chr15:44203200-44208600	Enhancers	Brain Hippocampus Middle	brain
26	chr15:44203400-44206600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:44203600-44206600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr15:44204000-44206600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:44204400-44209000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:44204600-44207200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:44204600-44208400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:44204800-44207000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:44204800-44207000	Enhancers	HMEC	breast
34	chr15:44205200-44206800	Enhancers	Fetal Heart	heart
35	chr15:44205400-44206800	Enhancers	Adipose Nuclei	Adipose
36	chr15:44205400-44208000	Weak transcription	Right Atrium	heart
37	chr15:44205400-44208000	Weak transcription	Right Ventricle	heart
38	chr15:44206000-44206600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr15:44206000-44206800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:44206000-44206800	Enhancers	HUVEC	blood vessel
41	chr15:44206000-44208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:44206000-44208000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:44206000-44208000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:44206000-44208000	Weak transcription	Left Ventricle	heart
45	chr15:44206000-44208000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:44206000-44213400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:44206200-44206800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:44206200-44207200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:44206200-44207400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr15:44206200-44207600	Weak transcription	Brain Angular Gyrus	brain

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