Variant report

Variant	rs28868044
Chromosome Location	chr8:38920389-38920390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38920268..38922257-chr8:38925771..38928354,3	K562	blood:

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

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

rs_ID	r²[population]
rs10092021	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10441608	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10809000	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10809001	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784624	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11985898	0.87[EUR][1000 genomes]
rs12156418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28434452	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28563781	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28564878	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28579045	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28690874	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4075849	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4269506	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4517088	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4615534	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4733904	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4733971	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55797573	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56018450	0.82[AMR][1000 genomes]
rs59118660	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59814883	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6474517	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6474525	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67200247	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991383	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6997721	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7006535	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7013358	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015505	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7464810	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7818363	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7821437	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7830975	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7832284	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7834967	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7835604	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7840044	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7844927	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650347	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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
rs28868044	ADAM32	cis	Artery Tibial	GTEx
rs28868044	ADAM32	cis	Nerve Tibial	GTEx
rs28868044	ADAM32	cis	Adipose Subcutaneous	GTEx
rs28868044	ADAM32	cis	Artery Aorta	GTEx
rs28868044	ADAM32	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

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	chr8:38903000-38921400	Weak transcription	Fetal Heart	heart
6	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
7	chr8:38906000-38922600	Strong transcription	HSMM	muscle
8	chr8:38906800-38921400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:38909000-38922800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:38910200-38922800	Strong transcription	A549	lung
11	chr8:38910800-38920800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:38911000-38923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:38911200-38921000	Strong transcription	Placenta	Placenta
14	chr8:38911200-38921200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:38911200-38922600	Strong transcription	Dnd41	blood
16	chr8:38911200-38923400	Strong transcription	Osteobl	bone
17	chr8:38911400-38922000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:38911400-38923600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:38911600-38930000	Weak transcription	Pancreas	Pancrea
20	chr8:38911600-38933200	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:38911800-38921000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:38911800-38923000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr8:38911800-38923600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:38911800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
27	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:38912000-38921200	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
30	chr8:38912400-38922600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:38912800-38920400	Strong transcription	NHDF-Ad	bronchial
32	chr8:38912800-38923600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:38912800-38923600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:38913000-38920400	Weak transcription	Stomach Mucosa	stomach
35	chr8:38913200-38921000	Strong transcription	Adipose Nuclei	Adipose
36	chr8:38913200-38922800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:38913400-38923600	Strong transcription	Fetal Lung	lung
38	chr8:38913800-38921600	Strong transcription	Fetal Muscle Leg	muscle
39	chr8:38913800-38921800	Strong transcription	Fetal Intestine Large	intestine
40	chr8:38913800-38922600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr8:38914000-38920600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:38914000-38920600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:38914000-38929400	Weak transcription	Liver	Liver
44	chr8:38914200-38934000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
46	chr8:38914600-38935000	Weak transcription	Brain Anterior Caudate	brain
47	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
48	chr8:38915000-38921000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:38915000-38922600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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