Variant report

Variant	rs16904257
Chromosome Location	chr8:131387426-131387427
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	chr8:131383872..131386552-chr8:131387073..131389271,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12056781	0.80[EUR][1000 genomes]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1426102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904209	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs16904230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904232	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16904237	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16904252	1.00[YRI][hapmap]
rs16904253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16904261	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]
rs16904263	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16904264	0.92[EUR][1000 genomes]
rs17210536	0.88[CEU][hapmap]
rs2303444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs4363239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4629915	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]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16904257	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs16904257	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
2	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
4	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
5	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:131371800-131396400	Weak transcription	HepG2	liver
7	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
8	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
9	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
11	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
12	chr8:131378800-131387800	Weak transcription	HMEC	breast
13	chr8:131378800-131388000	Weak transcription	Hela-S3	cervix
14	chr8:131379000-131387800	Weak transcription	HSMM	muscle
15	chr8:131380400-131388200	Weak transcription	NH-A	brain
16	chr8:131380600-131388000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:131382000-131388000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:131382600-131398800	Weak transcription	Lung	lung
21	chr8:131382800-131390200	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:131383200-131388200	Weak transcription	NHDF-Ad	bronchial
23	chr8:131383200-131388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:131383200-131390000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:131383200-131392000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:131383200-131397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:131383800-131393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
30	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:131384200-131390400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:131384400-131388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:131384600-131388600	Strong transcription	A549	lung
34	chr8:131384600-131397000	Weak transcription	Ovary	ovary
35	chr8:131384800-131389600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
37	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
38	chr8:131385000-131387800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:131385000-131388200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:131385000-131388200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:131385000-131392000	Weak transcription	Esophagus	oesophagus
42	chr8:131385400-131387800	Weak transcription	Osteobl	bone
43	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
44	chr8:131386600-131388000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:131386600-131388400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:131386600-131388400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:131386600-131388800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131386800-131387600	Strong transcription	NHEK	skin
49	chr8:131386800-131387600	Strong transcription	NHLF	lung
50	chr8:131386800-131388000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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