Variant report

Variant	rs12005532
Chromosome Location	chr9:15308634-15308635
allele	C/T
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	MYC	chr9:15308589-15309040	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr9:15308508-15308858	MCF10A-Er-Src	breast:	n/a	n/a
3	FOSL2	chr9:15308437-15308916	SK-N-SH	brain:	n/a	chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308691-15308701
4	FOS	chr9:15308504-15308841	HUVEC	blood vessel:	n/a	chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308690-15308701
5	CEBPB	chr9:15308517-15308964	IMR90	lung:	n/a	n/a
6	FOS	chr9:15308454-15309008	MCF10A-Er-Src	breast:	n/a	chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308690-15308701
7	MYC	chr9:15308577-15308998	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr9:15308510-15308957	MCF10A-Er-Src	breast:	n/a	chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308690-15308701
9	STAT3	chr9:15308591-15308966	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:15308478-15308933	MCF10A-Er-Src	breast:	n/a	chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308690-15308701
11	FOS	chr9:15308510-15308908	MCF10A-Er-Src	breast:	n/a	chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308691-15308701 chr9:15308690-15308701

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:15306135..15309581-chr9:15420818..15425516,6	MCF-7	breast:

Variant related genes	Relation type
TTC39B	TF binding region
ENSG00000164975	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10453187	1.00[AMR][1000 genomes]
rs7038339	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031340	chr9:15163004-15332769	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2761505	chr9:15274373-15319613	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv892624	chr9:15283761-15415461	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv517975	chr9:15286446-15534070	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv613650	chr9:15296119-15378449	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv613651	chr9:15296355-15358157	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1015960	chr9:15296783-15380657	ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv524849	chr9:15299590-15362057	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15307200-15309200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:15307800-15308800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:15307800-15308800	Enhancers	NHDF-Ad	bronchial
4	chr9:15307800-15309000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:15307800-15309000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr9:15307800-15309000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:15307800-15309000	Enhancers	NH-A	brain
8	chr9:15307800-15309000	Enhancers	Osteobl	bone
9	chr9:15307800-15309200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:15307800-15309200	Enhancers	HMEC	breast
11	chr9:15307800-15309400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:15307800-15309600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr9:15307800-15310000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr9:15307800-15310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:15307800-15310400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:15307800-15310600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr9:15307800-15310600	Enhancers	NHEK	skin
18	chr9:15307800-15311400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:15307800-15311600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:15308000-15309000	Enhancers	Primary T cells from cord blood	blood
21	chr9:15308000-15309200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:15308000-15309600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:15308000-15309600	Weak transcription	Stomach Mucosa	stomach
24	chr9:15308000-15309800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr9:15308000-15310200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:15308000-15310400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr9:15308400-15308800	Enhancers	Stomach Smooth Muscle	stomach
28	chr9:15308400-15309000	Enhancers	HUVEC	blood vessel
29	chr9:15308400-15309600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr9:15308600-15309600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr9:15308600-15309800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr9:15308600-15310000	Weak transcription	HSMM	muscle
33	chr9:15308600-15323000	Weak transcription	Fetal Intestine Small	intestine

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