Variant report

Variant	rs7975472
Chromosome Location	chr12:46909265-46909266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46908061..46910450-chr12:46912545..46914352,2	K562	blood:
2	chr12:46764690..46766524-chr12:46908591..46910958,2	MCF-7	breast:
3	chr12:46764120..46766517-chr12:46908748..46911657,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1008637	0.81[LWK][hapmap]
rs11183500	1.00[EUR][1000 genomes]
rs11183510	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs11183512	1.00[EUR][1000 genomes]
rs11183513	1.00[EUR][1000 genomes]
rs11830080	1.00[AMR][1000 genomes]
rs11830086	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834444	1.00[EUR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs12296783	1.00[EUR][1000 genomes]
rs12317179	1.00[EUR][1000 genomes]
rs12321960	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34098443	1.00[EUR][1000 genomes]
rs3935048	1.00[EUR][1000 genomes]
rs55649919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs59451063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136748	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74082454	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][1000 genomes]
rs74084124	1.00[AMR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085442	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085444	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74085447	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7980023	1.00[EUR][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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46893400-46911600	Weak transcription	Osteobl	bone
2	chr12:46903400-46917800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:46905400-46915800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:46906200-46912400	Weak transcription	Fetal Kidney	kidney
5	chr12:46907400-46910800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:46907400-46910800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:46907400-46910800	Weak transcription	Dnd41	blood
8	chr12:46907400-46911600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:46907600-46910400	Weak transcription	Primary B cells from cord blood	blood
10	chr12:46908000-46909600	Weak transcription	HepG2	liver
11	chr12:46908000-46910400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:46908000-46910600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:46908000-46910600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr12:46908000-46910800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:46908000-46910800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:46908000-46917400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:46908200-46910400	Weak transcription	Primary T cells from cord blood	blood
18	chr12:46908200-46910400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:46908400-46911200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:46908400-46914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:46908600-46909600	Enhancers	HMEC	breast
22	chr12:46908600-46909800	Weak transcription	K562	blood
23	chr12:46908600-46911400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:46908800-46909400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:46908800-46909400	Enhancers	NHEK	skin
26	chr12:46908800-46909600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr12:46908800-46910000	Strong transcription	NHLF	lung
28	chr12:46908800-46911000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:46909000-46909600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:46909000-46910600	Enhancers	Fetal Heart	heart
31	chr12:46909000-46910800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:46909200-46910400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:46909200-46911000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:46909200-46911000	Enhancers	Esophagus	oesophagus
35	chr12:46909200-46911000	Enhancers	Right Ventricle	heart
36	chr12:46909200-46911200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:46909200-46911200	Enhancers	Left Ventricle	heart
38	chr12:46909200-46911200	Enhancers	Right Atrium	heart
39	chr12:46909200-46912400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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