Variant report

Variant	rs1468707
Chromosome Location	chr18:8067216-8067217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11081349	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes]
rs11081353	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11660124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11660294	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11661715	0.87[CEU][hapmap];0.89[MEX][hapmap]
rs11664885	0.80[AMR][1000 genomes]
rs11873208	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11873445	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11876715	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12185387	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12956144	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17396187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476082	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes]
rs1942957	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044220	0.87[CEU][hapmap];0.89[MEX][hapmap]
rs4461180	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6506543	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs8088882	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8045800-8072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:8047000-8073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8052600-8078200	Weak transcription	Ovary	ovary
4	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:8063600-8073800	Weak transcription	Pancreas	Pancrea
6	chr18:8063600-8074000	Weak transcription	Liver	Liver
7	chr18:8063800-8067600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr18:8064600-8068000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:8064800-8069600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr18:8065000-8067800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr18:8065000-8068000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:8065200-8068000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:8065600-8069200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:8065600-8069600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:8065600-8073600	Weak transcription	Left Ventricle	heart
16	chr18:8065600-8101600	Weak transcription	Aorta	Aorta
17	chr18:8065800-8069200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr18:8066200-8094000	Weak transcription	Hela-S3	cervix
19	chr18:8066400-8067800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr18:8066400-8068000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr18:8066400-8068400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr18:8066600-8067800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr18:8066600-8068000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:8067000-8067400	Weak transcription	HepG2	liver
25	chr18:8067000-8067600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr18:8067000-8085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:8067200-8067600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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