Variant report

Variant	rs73293605
Chromosome Location	chr12:12672728-12672729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12663586..12666811-chr12:12669278..12673958,4	MCF-7	breast:
2	chr12:12672602..12674761-chr12:12714230..12715790,2	MCF-7	breast:
3	chr12:12657662..12660778-chr12:12669355..12673750,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111266	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58199331	1.00[AFR][1000 genomes]
rs7303633	1.00[AFR][1000 genomes]
rs73289691	1.00[AFR][1000 genomes]
rs73289695	1.00[AFR][1000 genomes]
rs73289701	1.00[AFR][1000 genomes]
rs73291606	1.00[AFR][1000 genomes]
rs73291612	1.00[AFR][1000 genomes]
rs73291624	1.00[AFR][1000 genomes]
rs73291699	1.00[AFR][1000 genomes]
rs73291700	0.90[AFR][1000 genomes]
rs73293611	1.00[AFR][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	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv898811	chr12:12655443-12928295	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv523366	chr12:12665246-12679124	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv33583	chr12:12665776-12679108	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12630800-12681000	Weak transcription	Colonic Mucosa	Colon
2	chr12:12634400-12685200	Weak transcription	Hela-S3	cervix
3	chr12:12639400-12679600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:12641600-12686200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
8	chr12:12660400-12672800	Weak transcription	K562	blood
9	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:12660800-12676600	Weak transcription	Pancreas	Pancrea
11	chr12:12660800-12679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:12664000-12690400	Weak transcription	NHLF	lung
13	chr12:12664800-12673600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:12665000-12684400	Weak transcription	NHDF-Ad	bronchial
15	chr12:12665000-12685600	Weak transcription	HMEC	breast
16	chr12:12665000-12686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:12665800-12678800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:12666800-12681200	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:12667000-12674400	Strong transcription	Fetal Thymus	thymus
20	chr12:12667000-12675000	Weak transcription	Spleen	Spleen
21	chr12:12667200-12673000	Strong transcription	Fetal Muscle Leg	muscle
22	chr12:12667400-12686400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:12667600-12680800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:12668000-12680800	Weak transcription	Right Atrium	heart
25	chr12:12668800-12674200	Strong transcription	Placenta	Placenta
26	chr12:12668800-12674600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:12669000-12673000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:12669000-12673200	Strong transcription	HepG2	liver
29	chr12:12669200-12674200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr12:12669200-12674400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:12669200-12674400	Strong transcription	Adipose Nuclei	Adipose
32	chr12:12669400-12673200	Enhancers	Fetal Intestine Small	intestine
33	chr12:12669600-12673000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr12:12669800-12673000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:12670000-12673000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:12670000-12674200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:12670000-12674400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:12670000-12674400	Genic enhancers	Fetal Intestine Large	intestine
39	chr12:12670000-12677400	Enhancers	Stomach Mucosa	stomach
40	chr12:12670200-12673200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:12670400-12673000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:12670800-12672800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:12670800-12673000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:12670800-12673000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:12671000-12673000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:12671000-12673000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:12671000-12674400	Strong transcription	GM12878-XiMat	blood
48	chr12:12671200-12672800	Active TSS	Brain Cingulate Gyrus	brain
49	chr12:12671200-12673000	Genic enhancers	Duodenum Mucosa	Duodenum
50	chr12:12671200-12673200	Enhancers	Rectal Mucosa Donor 31	rectum

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