Variant report

Variant	rs16904253
Chromosome Location	chr8:131362638-131362639
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131340112..131342181-chr8:131360380..131363177,2	K562	blood:
2	chr8:131362151..131363810-chr8:131363977..131365587,2	MCF-7	breast:
3	chr8:131356285..131362086-chr8:131362586..131365729,5	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1426102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1549454	0.87[CHD][hapmap]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904209	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs16904215	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs16904230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904237	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904252	0.87[GIH][hapmap];0.82[MEX][hapmap]
rs16904257	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];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904263	1.00[CEU][hapmap];0.92[GIH][hapmap];0.89[EUR][1000 genomes]
rs16904264	0.89[EUR][1000 genomes]
rs17210536	0.88[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap]
rs2303444	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs4363239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4629915	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733774	0.83[CHD][hapmap]
rs7463951	1.00[YRI][hapmap]

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	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16904253	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx
rs16904253	ASAP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:131346400-131368800	Weak transcription	Fetal Intestine Small	intestine
3	chr8:131347600-131368000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:131353800-131367600	Weak transcription	Dnd41	blood
5	chr8:131354400-131363400	Enhancers	Fetal Heart	heart
6	chr8:131354400-131368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:131354400-131368800	Weak transcription	Colonic Mucosa	Colon
8	chr8:131354800-131363400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:131355000-131365800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:131355400-131365200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr8:131355400-131368400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:131355400-131369000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131355600-131364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
15	chr8:131356800-131363600	Enhancers	Adipose Nuclei	Adipose
16	chr8:131357000-131368400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:131357200-131363000	Enhancers	Brain Substantia Nigra	brain
18	chr8:131357200-131365000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:131357400-131364000	Enhancers	Left Ventricle	heart
20	chr8:131357400-131364200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:131357600-131364800	Enhancers	Right Atrium	heart
22	chr8:131357600-131364800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:131357600-131365000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:131357800-131362800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:131358000-131369000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:131358200-131363600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:131358400-131363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:131358400-131363400	Genic enhancers	HSMM	muscle
29	chr8:131358400-131363600	Enhancers	NHDF-Ad	bronchial
30	chr8:131358600-131363400	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:131358600-131364600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:131358800-131367600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:131358800-131368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:131359000-131369000	Weak transcription	Esophagus	oesophagus
35	chr8:131359200-131363000	Enhancers	Spleen	Spleen
36	chr8:131359200-131363200	Enhancers	Psoas Muscle	Psoas
37	chr8:131359200-131364600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131359400-131364400	Enhancers	Right Ventricle	heart
39	chr8:131359600-131368000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:131359600-131368600	Weak transcription	Liver	Liver
41	chr8:131359800-131362800	Strong transcription	NHEK	skin
42	chr8:131359800-131363600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:131359800-131366400	Weak transcription	Fetal Brain Male	brain
44	chr8:131359800-131368800	Weak transcription	Fetal Lung	lung
45	chr8:131359800-131369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:131359800-131369600	Weak transcription	Fetal Kidney	kidney
47	chr8:131360000-131363200	Strong transcription	Fetal Stomach	stomach
48	chr8:131360000-131363800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:131360000-131365800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:131360000-131368400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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