Variant report

Variant	rs4629915
Chromosome Location	chr8:131399069-131399070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12056781	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1417008	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1426102	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1556972	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16904214	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs16904215	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904227	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs16904229	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904230	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16904232	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16904235	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904236	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904237	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16904247	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904251	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904253	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904257	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16904261	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904263	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs16904264	0.98[EUR][1000 genomes]
rs17210536	0.82[CEU][hapmap]
rs2303444	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4363239	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4629915	ASAP1	cis	Esophagus Muscularis	GTEx
rs4629915	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
6	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
10	chr8:131388600-131400200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:131388600-131407200	Weak transcription	HSMM	muscle
12	chr8:131388800-131400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:131388800-131400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:131388800-131400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
17	chr8:131389600-131399200	Strong transcription	NHEK	skin
18	chr8:131390000-131400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:131390400-131400200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:131390400-131401000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:131390800-131401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:131390800-131401400	Weak transcription	Liver	Liver
24	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:131392200-131399200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:131392200-131400200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
28	chr8:131392800-131399400	Strong transcription	A549	lung
29	chr8:131393000-131400400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:131393000-131401000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:131394200-131408800	Weak transcription	NH-A	brain
32	chr8:131395200-131399400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:131395400-131399200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:131395600-131400400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
36	chr8:131396000-131399400	Strong transcription	HUVEC	blood vessel
37	chr8:131396200-131399400	Strong transcription	HMEC	breast
38	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:131396400-131399200	Strong transcription	HepG2	liver
40	chr8:131396800-131399200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:131396800-131400200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:131396800-131400600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:131396800-131408400	Weak transcription	Fetal Heart	heart
44	chr8:131397000-131399200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:131397200-131407400	Weak transcription	Spleen	Spleen
46	chr8:131397400-131407200	Weak transcription	Ovary	ovary
47	chr8:131397600-131399200	Strong transcription	Placenta	Placenta
48	chr8:131397600-131399200	ZNF genes & repeats	Fetal Stomach	stomach
49	chr8:131398200-131400800	Weak transcription	NHDF-Ad	bronchial
50	chr8:131398200-131408400	Weak transcription	Stomach Smooth Muscle	stomach

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