Variant report

Variant	rs6916495
Chromosome Location	chr6:132160265-132160266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12191120	0.86[EUR][1000 genomes]
rs2327173	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71572984	0.86[EUR][1000 genomes]
rs7769712	0.85[GIH][hapmap]
rs7771242	0.86[EUR][1000 genomes]
rs7771841	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7775376	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs7775386	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs9493116	0.85[GIH][hapmap]

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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6916495	ENPP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132132800-132162400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:132132800-132162800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:132138600-132163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:132141000-132176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:132141600-132172000	Weak transcription	HSMM	muscle
6	chr6:132145800-132171800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:132147600-132199200	Weak transcription	Fetal Stomach	stomach
8	chr6:132149200-132161800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:132149600-132162000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:132149800-132172200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:132151600-132164800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:132151600-132182400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:132154200-132171800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:132158200-132162000	Weak transcription	Fetal Kidney	kidney
15	chr6:132158200-132162800	Weak transcription	Pancreas	Pancrea
16	chr6:132158200-132164600	Weak transcription	NHLF	lung
17	chr6:132158200-132171200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:132158400-132165000	Enhancers	HepG2	liver
19	chr6:132159600-132162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:132159600-132162600	Weak transcription	NHDF-Ad	bronchial
21	chr6:132159600-132164800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:132159600-132176000	Weak transcription	NH-A	brain
23	chr6:132159600-132179800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:132160000-132180600	Weak transcription	Placenta	Placenta
25	chr6:132160200-132160800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:132160200-132160800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:132160200-132164600	Enhancers	Liver	Liver

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