Variant report

Variant	rs1044498
Chromosome Location	chr6:132172368-132172369
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132171047..132173873-chr6:132185741..132187321,2	K562	blood:
2	chr6:132162392..132164571-chr6:132171274..132173675,2	MCF-7	breast:
3	chr6:132167178..132169740-chr6:132170210..132172928,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11154645	0.84[ASN][1000 genomes]
rs2208060	0.83[AFR][1000 genomes]
rs4141767	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs4897548	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6569761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6569762	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6569763	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6926728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6926970	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]
rs7749493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7767502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7769712	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs7775376	0.81[GIH][hapmap]
rs7775386	0.87[GIH][hapmap]
rs9493116	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][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
rs1044498	ENPP1	cis	cerebellum	SCAN

Chromatin state (count:45 , 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	chr6:132147600-132199200	Weak transcription	Fetal Stomach	stomach
3	chr6:132151600-132182400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:132159600-132176000	Weak transcription	NH-A	brain
5	chr6:132159600-132179800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:132160000-132180600	Weak transcription	Placenta	Placenta
7	chr6:132162200-132211000	Weak transcription	Fetal Kidney	kidney
8	chr6:132162600-132181000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:132163000-132181000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:132163000-132182600	Weak transcription	HSMMtube	muscle
11	chr6:132163000-132213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:132163400-132179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:132163600-132183400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:132165200-132174600	Weak transcription	Pancreas	Pancrea
15	chr6:132166000-132180000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:132166000-132185000	Weak transcription	Fetal Intestine Large	intestine
17	chr6:132166200-132179800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:132167400-132176000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:132168000-132179200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:132168800-132183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:132169800-132181000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:132170000-132173000	Genic enhancers	HepG2	liver
23	chr6:132170600-132174400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:132170600-132201800	Weak transcription	Left Ventricle	heart
25	chr6:132170800-132211200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:132171000-132180200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:132171200-132173200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:132171200-132183800	Weak transcription	Stomach Mucosa	stomach
29	chr6:132171200-132209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:132171600-132173200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:132171800-132172400	Strong transcription	Fetal Muscle Leg	muscle
32	chr6:132171800-132172600	Strong transcription	Fetal Intestine Small	intestine
33	chr6:132171800-132173200	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr6:132171800-132173200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr6:132171800-132173400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:132171800-132175000	Genic enhancers	Liver	Liver
37	chr6:132172000-132172400	Strong transcription	HSMM	muscle
38	chr6:132172000-132173200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:132172000-132173200	Enhancers	Fetal Heart	heart
40	chr6:132172000-132173200	Strong transcription	Osteobl	bone
41	chr6:132172200-132172400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr6:132172200-132172400	Genic enhancers	Aorta	Aorta
43	chr6:132172200-132172800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:132172200-132173000	Strong transcription	Adipose Nuclei	Adipose
45	chr6:132172200-132173800	Strong transcription	NHLF	lung

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