Variant report

Variant	rs766592
Chromosome Location	chr6:132131601-132131602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132128149..132132112-chr6:132147030..132152072,5	MCF-7	breast:
2	chr6:132127732..132131121-chr6:132131538..132134913,3	MCF-7	breast:
3	chr6:132126867..132133246-chr6:132138030..132146402,10	MCF-7	breast:
4	chr6:132126588..132131688-chr6:132138399..132143000,6	MCF-7	breast:
5	chr6:132130809..132133668-chr6:132135855..132137635,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000219532	Chromatin interaction
ENSG00000200895	Chromatin interaction
ENSG00000237115	Chromatin interaction
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10457576	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12201710	0.91[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap]
rs1800949	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs6939185	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs7756163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs7771841	0.82[CHB][hapmap]
rs943003	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv5479	chr6:132101897-132136593	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs766592	ENPP3	cis	parietal	SCAN
rs766592	SLC46A2	trans	cerebellum	SCAN
rs766592	ENPP1	cis	parietal	SCAN
rs766592	ENPP1	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132130200-132132600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:132130400-132132000	Weak transcription	Adipose Nuclei	Adipose
3	chr6:132130400-132132200	Enhancers	Liver	Liver
4	chr6:132130400-132132600	Weak transcription	Aorta	Aorta
5	chr6:132130400-132133000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:132130400-132133600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:132130400-132140000	Weak transcription	HSMM	muscle
8	chr6:132130800-132131800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:132130800-132132200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr6:132130800-132132200	Enhancers	NHDF-Ad	bronchial
11	chr6:132130800-132132400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:132130800-132140000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:132131200-132131800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:132131200-132131800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:132131200-132132000	Enhancers	HepG2	liver
16	chr6:132131200-132132200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:132131200-132132200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:132131200-132132400	Enhancers	Pancreas	Pancrea
19	chr6:132131400-132132000	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:132131400-132132400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:132131400-132133000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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