Variant report

Variant	rs16904263
Chromosome Location	chr8:131418029-131418030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11784539	0.83[ASN][1000 genomes]
rs12056781	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1417008	1.00[CEU][hapmap];0.97[GIH][hapmap]
rs1426102	1.00[CEU][hapmap];0.92[GIH][hapmap];0.89[EUR][1000 genomes]
rs1556972	1.00[CEU][hapmap]
rs16904227	1.00[CEU][hapmap]
rs16904229	1.00[CEU][hapmap]
rs16904230	1.00[CEU][hapmap];0.95[GIH][hapmap]
rs16904232	1.00[CEU][hapmap];0.97[GIH][hapmap]
rs16904235	1.00[CEU][hapmap]
rs16904236	1.00[CEU][hapmap];0.97[GIH][hapmap]
rs16904237	0.94[CEU][hapmap];0.97[GIH][hapmap]
rs16904247	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16904251	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16904252	0.90[GIH][hapmap]
rs16904253	1.00[CEU][hapmap];0.92[GIH][hapmap];0.89[EUR][1000 genomes]
rs16904257	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16904261	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs16904264	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2303444	1.00[CEU][hapmap];0.97[GIH][hapmap]
rs4363239	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4629915	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs67552634	0.85[ASN][1000 genomes]
rs68113520	0.85[ASN][1000 genomes]
rs73427441	0.86[ASN][1000 genomes]
rs73427442	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73427444	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9643254	0.81[GIH][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16904263	FAM84B	cis	cerebellum	SCAN
rs16904263	ASAP1	cis	Esophagus Muscularis	GTEx
rs16904263	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
3	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
9	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
12	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
17	chr8:131410000-131423200	Weak transcription	Ovary	ovary
18	chr8:131411200-131420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:131411400-131418400	Weak transcription	Fetal Lung	lung
20	chr8:131411400-131419400	Weak transcription	Left Ventricle	heart
21	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:131414600-131419400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:131414800-131422000	Weak transcription	Fetal Heart	heart
26	chr8:131415200-131420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:131416600-131419600	Genic enhancers	HUVEC	blood vessel
28	chr8:131416600-131420600	Enhancers	NHLF	lung
29	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
30	chr8:131417200-131418400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:131417400-131418400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:131417400-131419400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:131417400-131422800	Weak transcription	NH-A	brain
35	chr8:131417600-131419600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:131417600-131420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
38	chr8:131417800-131420400	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:131418000-131418200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:131418000-131418400	Weak transcription	NHEK	skin
41	chr8:131418000-131418600	Enhancers	HMEC	breast
42	chr8:131418000-131418800	Weak transcription	Right Atrium	heart
43	chr8:131418000-131419000	Weak transcription	Osteobl	bone
44	chr8:131418000-131419200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:131418000-131419200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:131418000-131419200	Weak transcription	A549	lung
47	chr8:131418000-131419200	Weak transcription	NHDF-Ad	bronchial
48	chr8:131418000-131419400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:131418000-131419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:131418000-131419800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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