Variant report

Variant	rs7957026
Chromosome Location	chr12:31748491-31748492
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	chr12:31743328..31745615-chr12:31747440..31749216,2	MCF-7	breast:
2	chr12:31739424..31741927-chr12:31747863..31749994,2	K562	blood:

Variant related genes	Relation type
ENSG00000255867	Chromatin interaction
ENSG00000170456	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10743757	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs10743758	1.00[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap]
rs10743759	0.88[EUR][1000 genomes]
rs10771832	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10771843	0.88[EUR][1000 genomes]
rs10771844	0.85[EUR][1000 genomes]
rs10771845	0.89[EUR][1000 genomes]
rs10771846	0.89[EUR][1000 genomes]
rs10843947	1.00[CEU][hapmap]
rs10843958	0.87[EUR][1000 genomes]
rs10843959	0.87[EUR][1000 genomes]
rs10843963	0.90[EUR][1000 genomes]
rs11051418	1.00[CEU][hapmap]
rs11051435	0.81[EUR][1000 genomes]
rs11051437	0.92[CEU][hapmap]
rs11051441	1.00[CEU][hapmap];0.81[GIH][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs1259236	0.84[CEU][hapmap]
rs1259428	0.92[CEU][hapmap];0.89[TSI][hapmap]
rs1469673	1.00[CEU][hapmap]
rs1996693	0.90[EUR][1000 genomes]
rs2116704	1.00[CEU][hapmap]
rs2352048	0.89[EUR][1000 genomes]
rs2568884	0.83[TSI][hapmap]
rs2682697	0.82[CEU][hapmap]
rs3803113	0.87[EUR][1000 genomes]
rs3844573	0.89[CEU][hapmap]
rs3850965	1.00[CEU][hapmap];0.84[GIH][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs3853626	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3898368	1.00[CEU][hapmap];0.83[GIH][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes]
rs4482118	1.00[CEU][hapmap];0.84[GIH][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs4930980	0.90[EUR][1000 genomes]
rs4931501	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4931506	0.87[EUR][1000 genomes]
rs4931507	0.96[CEU][hapmap];0.81[GIH][hapmap];0.96[TSI][hapmap];0.87[EUR][1000 genomes]
rs6487992	0.92[CEU][hapmap]
rs6487996	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs708209	0.92[CEU][hapmap];0.87[TSI][hapmap]
rs7133082	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7135856	0.91[CEU][hapmap]
rs7136476	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7302698	1.00[CEU][hapmap]
rs7307593	0.87[EUR][1000 genomes]
rs7307616	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs7313118	0.96[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs7314417	0.81[EUR][1000 genomes]
rs793184	0.82[CEU][hapmap]
rs7954595	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7959877	1.00[CEU][hapmap];0.81[GIH][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap]
rs7962896	1.00[CEU][hapmap];0.81[GIH][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap]
rs7963161	0.80[EUR][1000 genomes]
rs7967832	0.81[EUR][1000 genomes]
rs7976644	1.00[CEU][hapmap];0.81[GIH][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes]
rs899159	0.81[CEU][hapmap]
rs9738834	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv1797962	chr12:31733044-31761172	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1804747	chr12:31743194-31748491	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1840310	chr12:31743194-31750986	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv975472	chr12:31748491-31751020	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7957026	DENND5B	cis	parietal	SCAN
rs7957026	DENND5B	cis	cerebellum	SCAN
rs7957026	FLJ13224	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31745000-31749800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:31745200-31750200	Weak transcription	Primary B cells from cord blood	blood
3	chr12:31745400-31750200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:31745400-31750400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:31745400-31760400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:31748000-31748800	Weak transcription	Fetal Heart	heart
7	chr12:31748400-31750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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