Variant report

Variant	rs1426102
Chromosome Location	chr8:131313369-131313370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131305468..131307636-chr8:131313126..131315652,2	K562	blood:
2	chr8:131305468..131308042-chr8:131311655..131315652,3	K562	blood:
3	chr8:131278240..131280307-chr8:131313127..131315525,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1417008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1556972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[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];0.86[AMR][1000 genomes]
rs16904210	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs16904214	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs16904215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs16904227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16904229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16904230	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16904232	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16904235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904236	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16904237	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16904251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16904252	0.88[GIH][hapmap];0.82[MEX][hapmap];0.95[AMR][1000 genomes]
rs16904253	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]
rs16904257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904261	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.85[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	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]
rs2305510	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs4363239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4629915	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7463951	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
rs1426102	ASAP1	cis	Esophagus Muscularis	GTEx
rs1426102	ASAP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282400-131314800	Weak transcription	Gastric	stomach
2	chr8:131300400-131314800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:131302600-131317400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:131302800-131315400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:131304400-131315600	Enhancers	Brain Hippocampus Middle	brain
6	chr8:131305200-131313800	Enhancers	Right Ventricle	heart
7	chr8:131305200-131315400	Enhancers	Brain Cingulate Gyrus	brain
8	chr8:131305800-131315400	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:131306000-131314600	Weak transcription	Placenta	Placenta
10	chr8:131306000-131314800	Weak transcription	Fetal Brain Female	brain
11	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:131306000-131321600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:131306200-131314000	Weak transcription	Hela-S3	cervix
14	chr8:131306200-131314600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:131306200-131314600	Weak transcription	Fetal Thymus	thymus
16	chr8:131306200-131315000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:131306800-131314800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:131307000-131314400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:131307000-131329600	Weak transcription	Aorta	Aorta
20	chr8:131308400-131314600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:131308400-131315600	Enhancers	Adipose Nuclei	Adipose
22	chr8:131308800-131314200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:131308800-131314600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131309400-131314600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:131309400-131315400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:131309400-131315400	Enhancers	Brain Substantia Nigra	brain
27	chr8:131309600-131314200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:131309800-131315400	Enhancers	Ovary	ovary
29	chr8:131309800-131315800	Enhancers	Fetal Heart	heart
30	chr8:131310000-131314800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:131310000-131315400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr8:131310000-131316000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:131310200-131314600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:131310200-131314600	Weak transcription	Thymus	Thymus
35	chr8:131310200-131314800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:131310400-131313600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:131310400-131314000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:131310400-131314600	Weak transcription	K562	blood
39	chr8:131310600-131314200	Weak transcription	HepG2	liver
40	chr8:131310600-131316400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:131310800-131317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:131310800-131328200	Weak transcription	Lung	lung
43	chr8:131311000-131314200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:131311200-131314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:131311400-131314600	Weak transcription	NHEK	skin
46	chr8:131311600-131313400	Enhancers	Fetal Kidney	kidney
47	chr8:131311600-131314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:131311600-131314000	Weak transcription	HMEC	breast
49	chr8:131311600-131316000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr8:131311600-131317400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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