Variant report

Variant	rs7974515
Chromosome Location	chr12:47508264-47508265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47507499..47510345-chr12:47516266..47518261,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10219594	0.82[YRI][hapmap]
rs10881045	0.82[YRI][hapmap]
rs11183742	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11183743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312927	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12316312	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 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	chr12:47492200-47511600	Weak transcription	Lung	lung
2	chr12:47494400-47514600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:47494400-47514600	Weak transcription	NH-A	brain
4	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
5	chr12:47497600-47511400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:47497600-47514600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:47497800-47514800	Weak transcription	Osteobl	bone
8	chr12:47498800-47511000	Weak transcription	Ovary	ovary
9	chr12:47499600-47514800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:47501800-47512600	Weak transcription	Spleen	Spleen
11	chr12:47504200-47508400	Weak transcription	A549	lung
12	chr12:47505600-47528800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:47506000-47508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr12:47506200-47510200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:47506200-47514800	Weak transcription	HSMM	muscle
18	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:47506400-47509200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:47506400-47516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:47506800-47509400	Strong transcription	Primary T cells from cord blood	blood
22	chr12:47506800-47528800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr12:47507000-47514600	Weak transcription	HMEC	breast
24	chr12:47507200-47508400	Strong transcription	HSMMtube	muscle
25	chr12:47507200-47509200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:47507400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:47507600-47509400	Strong transcription	NHEK	skin
28	chr12:47507800-47508800	Enhancers	NHDF-Ad	bronchial
29	chr12:47507800-47509400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:47508000-47508600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:47508000-47509200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:47508000-47509400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:47508000-47510200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:47508200-47508600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:47508200-47508600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:47508200-47508600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:47508200-47508600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:47508200-47508800	Enhancers	Adipose Nuclei	Adipose
39	chr12:47508200-47509200	Enhancers	K562	blood

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