Variant report

Variant	rs7709280
Chromosome Location	chr5:128462405-128462406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:128461144..128463118-chr5:128795505..128797060,2	MCF-7	breast:
2	chr5:128240931..128241657-chr5:128461887..128462572,2	MCF-7	breast:
3	chr5:128433582..128436325-chr5:128460643..128463570,2	MCF-7	breast:
4	chr5:128449401..128450328-chr5:128462057..128462852,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145808	Chromatin interaction
ENSG00000249421	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10520025	0.88[EUR][1000 genomes]
rs17165184	0.88[CHB][hapmap];0.96[CHD][hapmap];0.84[ASN][1000 genomes]
rs174007	0.92[CHD][hapmap]
rs17700208	0.85[CEU][hapmap]
rs2287751	0.88[CHB][hapmap];0.96[CHD][hapmap];0.84[ASN][1000 genomes]
rs257917	0.85[CHB][hapmap]
rs3798119	0.84[ASN][1000 genomes]
rs72783125	0.85[ASN][1000 genomes]
rs7706884	0.88[CHB][hapmap];0.96[CHD][hapmap];0.83[ASN][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	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv882849	chr5:128446692-128501738	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv462444	chr5:128458834-128531972	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv599702	chr5:128458834-128531972	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv2763870	chr5:128460713-128738285	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv882850	chr5:128460963-128529794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7709280	SLC27A6	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128453200-128462600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:128461200-128462600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr5:128461400-128462600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr5:128461400-128462600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr5:128461400-128462800	Enhancers	Stomach Mucosa	stomach
6	chr5:128461600-128462600	Enhancers	Adipose Nuclei	Adipose
7	chr5:128461600-128462800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr5:128461600-128462800	Enhancers	Fetal Intestine Large	intestine
9	chr5:128461600-128462800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:128462000-128462600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:128462000-128462600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:128462000-128462600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:128462000-128462600	Enhancers	Small Intestine	intestine
14	chr5:128462000-128462600	Enhancers	NHEK	skin
15	chr5:128462000-128462800	Enhancers	K562	blood
16	chr5:128462200-128462600	Enhancers	GM12878-XiMat	blood
17	chr5:128462200-128462800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:128462200-128462800	Enhancers	Liver	Liver
19	chr5:128462200-128462800	Enhancers	Pancreas	Pancrea
20	chr5:128462400-128462600	Enhancers	Fetal Heart	heart
21	chr5:128462400-128462600	Enhancers	Left Ventricle	heart
22	chr5:128462400-128462600	Enhancers	Lung	lung
23	chr5:128462400-128462800	Enhancers	Gastric	stomach
24	chr5:128462400-128465600	Weak transcription	Primary monocytes fromperipheralblood	blood

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