Variant report

Variant	rs13252591
Chromosome Location	chr8:99370893-99370894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13273214	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16896927	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28731215	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35768013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987159	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987414	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6989037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7008701	0.88[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842811	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843228	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843256	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99363600-99373800	Weak transcription	Pancreas	Pancrea
2	chr8:99367400-99377000	Enhancers	Fetal Lung	lung
3	chr8:99368000-99371000	Enhancers	Ovary	ovary
4	chr8:99368200-99371200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:99368200-99372600	Enhancers	NHDF-Ad	bronchial
6	chr8:99368400-99371200	Enhancers	Fetal Muscle Leg	muscle
7	chr8:99369000-99371400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:99369400-99371200	Enhancers	Fetal Muscle Trunk	muscle
9	chr8:99369600-99371000	Enhancers	Lung	lung
10	chr8:99369600-99371200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:99369800-99373400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:99370200-99371000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
13	chr8:99370200-99371000	Enhancers	Right Atrium	heart
14	chr8:99370200-99371200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:99370400-99371000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr8:99370400-99371000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:99370400-99371000	Enhancers	Esophagus	oesophagus
18	chr8:99370400-99371000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:99370400-99371000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:99370400-99371000	Enhancers	Stomach Smooth Muscle	stomach
21	chr8:99370400-99371000	Flanking Active TSS	NHEK	skin
22	chr8:99370400-99371200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:99370400-99371400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:99370400-99371400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:99370400-99371400	Enhancers	Placenta	Placenta
26	chr8:99370400-99371400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:99370400-99371400	Enhancers	HMEC	breast
28	chr8:99370400-99371400	Flanking Active TSS	Osteobl	bone
29	chr8:99370400-99372600	Enhancers	Left Ventricle	heart
30	chr8:99370600-99371000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:99370600-99371000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:99370600-99371000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:99370600-99371000	Enhancers	Right Ventricle	heart
34	chr8:99370600-99371000	Flanking Active TSS	A549	lung
35	chr8:99370600-99371000	Enhancers	HSMM	muscle
36	chr8:99370600-99371000	Flanking Active TSS	NHLF	lung
37	chr8:99370600-99371200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:99370600-99371200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:99370600-99371200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:99370600-99371200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:99370600-99371200	Enhancers	GM12878-XiMat	blood
42	chr8:99370600-99371200	Flanking Active TSS	Hela-S3	cervix
43	chr8:99370600-99371400	Flanking Active TSS	HUVEC	blood vessel
44	chr8:99370800-99371000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:99370800-99371000	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:99370800-99371000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:99370800-99371000	Enhancers	Fetal Heart	heart
48	chr8:99370800-99371000	Enhancers	Stomach Mucosa	stomach
49	chr8:99370800-99371000	Enhancers	HepG2	liver
50	chr8:99370800-99371200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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