Variant report

Variant	rs2303444
Chromosome Location	chr8:131226752-131226753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1426102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs1549454	0.86[CHD][hapmap]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16904209	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904215	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16904230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16904232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16904237	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes]
rs16904251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16904252	0.92[GIH][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes]
rs16904253	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]
rs16904257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs16904261	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16904263	1.00[CEU][hapmap];0.97[GIH][hapmap]
rs17210536	0.88[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs2045093	0.82[CHD][hapmap]
rs2305510	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3758028	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs4295708	0.86[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[YRI][hapmap]
rs4363239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs4629915	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4733774	0.82[CHD][hapmap]
rs7463951	1.00[YRI][hapmap]
rs749126	0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	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
rs2303444	ASAP1	cis	Esophagus Muscularis	GTEx
rs2303444	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
2	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
3	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
4	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
5	chr8:131210000-131250400	Weak transcription	Gastric	stomach
6	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
7	chr8:131213600-131231600	Weak transcription	Right Atrium	heart
8	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
9	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:131214600-131238200	Weak transcription	Ovary	ovary
12	chr8:131215800-131231600	Weak transcription	Spleen	Spleen
13	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131217200-131237000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:131217400-131235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:131217600-131232000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
19	chr8:131219200-131232200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:131219200-131236000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131219200-131238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:131219200-131246800	Weak transcription	Fetal Thymus	thymus
23	chr8:131219200-131248000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:131219800-131235400	Weak transcription	Fetal Intestine Large	intestine
25	chr8:131219800-131247800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:131220200-131231800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:131220200-131232600	Weak transcription	GM12878-XiMat	blood
30	chr8:131220200-131233800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:131220200-131233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:131220200-131239400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:131220200-131240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:131220200-131240400	Weak transcription	HSMMtube	muscle
35	chr8:131220200-131248000	Weak transcription	Brain Anterior Caudate	brain
36	chr8:131220800-131233800	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:131221200-131233400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:131222600-131226800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:131222600-131233200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:131222800-131227000	Strong transcription	HSMM	muscle
41	chr8:131223400-131227000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:131224000-131227400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:131224200-131227000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:131224200-131227200	Strong transcription	HUVEC	blood vessel
45	chr8:131224200-131229400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:131224200-131231600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:131224400-131226800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:131224400-131227000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr8:131224400-131227000	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr8:131224400-131227000	Strong transcription	HMEC	breast

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