Variant report

Variant	rs55797573
Chromosome Location	chr8:38922736-38922737
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	chr8:38915849..38919016-chr8:38921261..38923485,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10092021	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10441608	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10809000	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10809001	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11784624	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11985898	0.81[EUR][1000 genomes]
rs12156418	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28434452	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28563781	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28564878	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28579045	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28690874	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28868044	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4075849	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4269506	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4517088	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4615534	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4733904	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4733971	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59118660	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59814883	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6474517	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6474525	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67200247	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991383	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6997721	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7006535	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7013358	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7015505	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7464810	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818363	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7821437	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7830975	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7832284	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7834967	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7835604	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7840044	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7844927	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9650347	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs55797573	ADAM32	cis	Thyroid	GTEx
rs55797573	ADAM32	cis	Artery Tibial	GTEx
rs55797573	ADAM32	cis	Adipose Subcutaneous	GTEx
rs55797573	ADAM32	cis	Nerve Tibial	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:38900600-38925600	Weak transcription	Small Intestine	intestine
4	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
6	chr8:38909000-38922800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:38910200-38922800	Strong transcription	A549	lung
8	chr8:38911000-38923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:38911200-38923400	Strong transcription	Osteobl	bone
10	chr8:38911400-38923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:38911600-38930000	Weak transcription	Pancreas	Pancrea
12	chr8:38911600-38933200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:38911800-38923000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:38911800-38923600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr8:38911800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:38912800-38923600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:38912800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:38913200-38922800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:38913400-38923600	Strong transcription	Fetal Lung	lung
24	chr8:38914000-38929400	Weak transcription	Liver	Liver
25	chr8:38914200-38934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
27	chr8:38914600-38935000	Weak transcription	Brain Anterior Caudate	brain
28	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
29	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:38916600-38923600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:38917200-38923200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:38917400-38922800	Strong transcription	NH-A	brain
33	chr8:38917400-38923000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr8:38917400-38929200	Weak transcription	Hela-S3	cervix
35	chr8:38917400-38929800	Weak transcription	Psoas Muscle	Psoas
36	chr8:38917400-38929800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
38	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
39	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:38918600-38923600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:38918800-38928800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:38918800-38928800	Weak transcription	NHEK	skin
43	chr8:38919000-38935000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:38919000-38944400	Weak transcription	Lung	lung
45	chr8:38919000-38949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:38919000-38952600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:38919000-38970400	Weak transcription	K562	blood
48	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:38920000-38923200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr8:38920200-38934800	Weak transcription	Placenta Amnion	Placenta Amnion

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