Variant report

Variant	rs6939185
Chromosome Location	chr6:132139187-132139188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:132126867..132133246-chr6:132138030..132146402,10	MCF-7	breast:
2	chr6:132126588..132131688-chr6:132138399..132143000,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10457576	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12201710	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[ASN][1000 genomes]
rs1800949	0.82[CHB][hapmap];0.88[CHD][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2021315	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4418212	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs766592	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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771841	0.82[CHB][hapmap]
rs943003	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493103	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6939185	ENPP1	cis	parietal	SCAN
rs6939185	SLC46A2	trans	cerebellum	SCAN
rs6939185	ENPP3	cis	parietal	SCAN
rs6939185	ENPP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132130400-132140000	Weak transcription	HSMM	muscle
2	chr6:132130800-132140000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:132132200-132148800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:132132200-132157800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:132132800-132162400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:132132800-132162800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:132133000-132142400	Weak transcription	Pancreas	Pancrea
8	chr6:132135000-132140800	Weak transcription	Aorta	Aorta
9	chr6:132136400-132140800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:132136800-132160200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:132137200-132140600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:132137200-132144400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:132137600-132140600	Weak transcription	NHLF	lung
14	chr6:132138000-132144000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:132138200-132142200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:132138200-132147400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:132138200-132148400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:132138400-132139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:132138600-132141800	Weak transcription	HepG2	liver
20	chr6:132138600-132163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:132138800-132140800	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links