Variant report

Variant	rs7975199
Chromosome Location	chr12:10794757-10794758
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	chr12:10793469..10795596-chr12:10796533..10798313,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57603976	0.81[AFR][1000 genomes]
rs57880649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488315	0.81[AFR][1000 genomes]
rs7300889	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264007	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264008	0.81[AFR][1000 genomes]
rs73264011	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264038	0.81[AFR][1000 genomes]
rs73264045	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73265915	0.85[AFR][1000 genomes]
rs7957167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966052	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970214	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10787800-10797800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:10788600-10797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:10789800-10795000	Enhancers	Stomach Mucosa	stomach
4	chr12:10790600-10799200	Weak transcription	Esophagus	oesophagus
5	chr12:10792600-10796600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:10792800-10795000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:10793600-10795200	Enhancers	NHDF-Ad	bronchial
8	chr12:10793800-10794800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:10793800-10795200	Enhancers	Placenta	Placenta
10	chr12:10794000-10794800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:10794000-10794800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:10794000-10794800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:10794000-10794800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr12:10794000-10794800	Enhancers	HMEC	breast
15	chr12:10794000-10794800	Enhancers	Osteobl	bone
16	chr12:10794000-10795000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:10794000-10795000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:10794000-10795000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:10794000-10795000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr12:10794000-10795000	Enhancers	NH-A	brain
21	chr12:10794200-10794800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:10794200-10794800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:10794200-10794800	Enhancers	Adipose Nuclei	Adipose
24	chr12:10794200-10795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:10794400-10794800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:10794600-10795000	Enhancers	NHEK	skin
27	chr12:10794600-10795800	Flanking Active TSS	HUVEC	blood vessel
28	chr12:10794600-10797400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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