Variant report

Variant	rs6926970
Chromosome Location	chr6:132167290-132167291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132167178..132169740-chr6:132170210..132172928,2	MCF-7	breast:
2	chr6:132158163..132159947-chr6:132166352..132169019,2	K562	blood:
3	chr6:132165848..132168401-chr6:132849433..132851521,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1044498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11154645	0.91[ASN][1000 genomes]
rs4141767	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs4897548	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6569761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569762	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569763	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6919751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6926728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7749493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7767502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7769712	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs7775386	0.84[GIH][hapmap]
rs9493113	0.86[ASN][1000 genomes]
rs9493116	1.00[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap];0.84[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	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
rs6926970	ENPP1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132141000-132176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:132141600-132172000	Weak transcription	HSMM	muscle
3	chr6:132145800-132171800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:132147600-132199200	Weak transcription	Fetal Stomach	stomach
5	chr6:132149800-132172200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:132151600-132182400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:132154200-132171800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:132158200-132171200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:132159600-132176000	Weak transcription	NH-A	brain
10	chr6:132159600-132179800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:132160000-132180600	Weak transcription	Placenta	Placenta
12	chr6:132162200-132171800	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:132162200-132211000	Weak transcription	Fetal Kidney	kidney
14	chr6:132162400-132171600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:132162600-132181000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:132163000-132181000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:132163000-132182600	Weak transcription	HSMMtube	muscle
18	chr6:132163000-132213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:132163400-132179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:132163600-132172200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:132163600-132183400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:132164000-132171800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:132165200-132174600	Weak transcription	Pancreas	Pancrea
24	chr6:132165400-132168600	Active TSS	Liver	Liver
25	chr6:132166000-132169400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:132166000-132170800	Weak transcription	Stomach Mucosa	stomach
27	chr6:132166000-132171800	Weak transcription	Fetal Intestine Small	intestine
28	chr6:132166000-132172000	Weak transcription	Osteobl	bone
29	chr6:132166000-132172200	Weak transcription	NHLF	lung
30	chr6:132166000-132180000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:132166000-132185000	Weak transcription	Fetal Intestine Large	intestine
32	chr6:132166200-132179800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:132167000-132168000	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr6:132167200-132168000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:132167200-132172200	Weak transcription	Adipose Nuclei	Adipose

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