Variant report

Variant	rs2891682
Chromosome Location	chr8:49815824-49815825
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1023768	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10808733	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11781122	0.83[EUR][1000 genomes]
rs16938768	1.00[CHD][hapmap]
rs17635249	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1992374	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3756	1.00[CHD][hapmap]
rs6982389	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2891682	SNTG1	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49808800-49818600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:49809400-49817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:49811600-49822000	Weak transcription	Fetal Kidney	kidney
4	chr8:49813400-49818200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:49814400-49817800	Enhancers	HSMM	muscle
6	chr8:49814600-49816400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:49814800-49816000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:49814800-49816000	Enhancers	Spleen	Spleen
9	chr8:49814800-49816200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:49814800-49816200	Enhancers	HSMMtube	muscle
11	chr8:49814800-49816400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:49814800-49816800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:49814800-49817400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:49814800-49817600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:49814800-49817800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:49814800-49817800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:49814800-49818000	Enhancers	NHLF	lung
18	chr8:49814800-49818200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:49814800-49818200	Enhancers	NHDF-Ad	bronchial
20	chr8:49815000-49818000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:49815000-49821000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:49815000-49821200	Weak transcription	Fetal Lung	lung
23	chr8:49815200-49816000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:49815400-49816400	Flanking Active TSS	NH-A	brain
25	chr8:49815400-49816600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:49815600-49816000	Flanking Active TSS	Osteobl	bone
27	chr8:49815600-49816400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:49815600-49816400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:49815600-49816400	Weak transcription	Ovary	ovary
30	chr8:49815600-49817000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:49815600-49817400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:49815800-49816000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:49815800-49816000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:49815800-49816200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:49815800-49816200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:49815800-49816800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:49815800-49816800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:49815800-49816800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:49815800-49817200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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