Variant report

Variant	rs4796093
Chromosome Location	chr17:33846604-33846605
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr17:33846508-33846875	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr17:33846522-33846851	MCF10A-Er-Src	breast:	n/a	n/a
3	TCF7L2	chr17:33846454-33846823	MCF-7	breast:	n/a	n/a
4	NR2F2	chr17:33846445-33846824	MCF-7	breast:	n/a	n/a
5	FOSL2	chr17:33846559-33846813	MCF-7	breast:	n/a	n/a
6	FOS	chr17:33846565-33846863	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr17:33846524-33846875	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr17:33846529-33846726	HepG2	liver:	n/a	n/a
9	FOXA1	chr17:33846528-33846766	HepG2	liver:	n/a	n/a
10	GATA3	chr17:33846541-33846849	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000255987	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11654795	0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12450474	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2165877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505479	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066424	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068353	0.80[CEU][hapmap]
rs8070473	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055936	chr17:33327166-33884184	Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
2	nsv543317	chr17:33327166-33884184	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
3	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv519981	chr17:33841737-33864479	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv574754	chr17:33841737-33881631	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4796093	PEX12	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33835400-33849600	Weak transcription	Spleen	Spleen
2	chr17:33837800-33846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:33842400-33847200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:33842800-33848200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:33843000-33846800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:33843200-33852200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr17:33843400-33846800	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr17:33845400-33846800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr17:33846000-33847200	ZNF genes & repeats	GM12878-XiMat	blood
10	chr17:33846000-33848200	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr17:33846000-33848200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:33846000-33848200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:33846000-33848600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:33846200-33847000	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr17:33846200-33847200	Enhancers	Duodenum Mucosa	Duodenum
16	chr17:33846200-33847400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr17:33846200-33849600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr17:33846400-33847000	Enhancers	NHEK	skin
19	chr17:33846400-33847200	Enhancers	Stomach Mucosa	stomach
20	chr17:33846400-33852000	Enhancers	Primary T cells from cord blood	blood
21	chr17:33846600-33846800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:33846600-33846800	Bivalent Enhancer	A549	lung
23	chr17:33846600-33847000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:33846600-33847000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr17:33846600-33847000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:33846600-33847000	Enhancers	Gastric	stomach
27	chr17:33846600-33847000	Enhancers	HMEC	breast
28	chr17:33846600-33847200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr17:33846600-33847600	Bivalent Enhancer	Fetal Lung	lung
30	chr17:33846600-33849200	Genic enhancers	Dnd41	blood

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