Variant report

Variant	rs59814883
Chromosome Location	chr8:38908019-38908020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10092021	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10441608	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10809000	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10809001	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11784624	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11985898	0.86[EUR][1000 genomes]
rs12156418	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28434452	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28563781	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28564878	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28579045	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28690874	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28868044	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4075849	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4269506	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4517088	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4615534	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4733904	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4733971	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55797573	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56018450	0.83[AMR][1000 genomes]
rs59118660	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6474517	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6474525	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67200247	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991383	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6997721	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006535	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7013358	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7015505	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7464810	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818363	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7821437	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7830975	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7832284	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7834967	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835604	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7840044	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7844927	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9650347	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445313	chr8:38886844-38936643	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3325011	chr8:38899844-38936643	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs59814883	ADAM32	cis	Nerve Tibial	GTEx
rs59814883	ADAM32	cis	Thyroid	GTEx
rs59814883	ADAM32	cis	Artery Aorta	GTEx
rs59814883	ADAM32	cis	Artery Tibial	GTEx
rs59814883	ADAM32	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38882000-38913600	Weak transcription	Fetal Kidney	kidney
2	chr8:38883000-38913000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:38885800-38911200	Weak transcription	Ovary	ovary
4	chr8:38887400-38911200	Weak transcription	Aorta	Aorta
5	chr8:38890200-38911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:38890200-38914400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:38890400-38919800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:38895600-38911200	Weak transcription	Fetal Stomach	stomach
9	chr8:38896000-38918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:38896200-38911200	Weak transcription	Placenta	Placenta
12	chr8:38896200-38911200	Weak transcription	Left Ventricle	heart
13	chr8:38896200-38916000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:38896400-38916400	Weak transcription	K562	blood
15	chr8:38896600-38912800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:38896800-38911200	Weak transcription	Adipose Nuclei	Adipose
17	chr8:38897200-38911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:38897600-38918600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:38899800-38911400	Weak transcription	Brain Angular Gyrus	brain
21	chr8:38899800-38916600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:38900000-38911200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:38900000-38911400	Weak transcription	Brain Substantia Nigra	brain
24	chr8:38900200-38911200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:38900400-38911400	Weak transcription	HMEC	breast
26	chr8:38900600-38912800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:38900600-38918400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr8:38900600-38925600	Weak transcription	Small Intestine	intestine
29	chr8:38900800-38912000	Weak transcription	Hela-S3	cervix
30	chr8:38901000-38911400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:38901600-38911200	Weak transcription	NHEK	skin
32	chr8:38902200-38908200	Weak transcription	Osteobl	bone
33	chr8:38902200-38911400	Weak transcription	Colon Smooth Muscle	Colon
34	chr8:38902400-38911000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:38902400-38916400	Weak transcription	Right Ventricle	heart
36	chr8:38902400-38920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:38902600-38911200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:38903000-38911200	Weak transcription	Dnd41	blood
40	chr8:38903000-38921400	Weak transcription	Fetal Heart	heart
41	chr8:38903400-38909200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:38904000-38909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:38904000-38909000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr8:38904200-38909200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:38904400-38911200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:38904600-38910200	Weak transcription	HepG2	liver
47	chr8:38904600-38911200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:38904600-38911200	Weak transcription	Gastric	stomach
49	chr8:38904600-38911200	Weak transcription	Spleen	Spleen
50	chr8:38904600-38911400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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