Variant report

Variant	rs73291699
Chromosome Location	chr12:12670159-12670160
allele	C/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	chr12:12657662..12660778-chr12:12669355..12673750,5	MCF-7	breast:
3	chr12:12669443..12671401-chr12:12739772..12741382,2	MCF-7	breast:
4	chr12:12669920..12672358-chr12:12713747..12715597,2	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]
rs73291700	0.90[AFR][1000 genomes]
rs73293605	1.00[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:109 , 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	chr12:12656800-12670800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:12659800-12670800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:12659800-12674200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:12659800-12678600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:12660000-12670200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:12660000-12681800	Weak transcription	Fetal Kidney	kidney
11	chr12:12660400-12670600	Weak transcription	Fetal Stomach	stomach
12	chr12:12660400-12672200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:12660400-12672400	Weak transcription	Right Ventricle	heart
14	chr12:12660400-12672600	Weak transcription	Esophagus	oesophagus
15	chr12:12660400-12672800	Weak transcription	K562	blood
16	chr12:12660400-12686200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:12660800-12670800	Weak transcription	Left Ventricle	heart
18	chr12:12660800-12672400	Weak transcription	Ovary	ovary
19	chr12:12660800-12676600	Weak transcription	Pancreas	Pancrea
20	chr12:12660800-12679800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:12662200-12672400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:12663400-12672400	Weak transcription	HSMMtube	muscle
23	chr12:12663600-12671400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:12663600-12672000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:12664000-12670600	Weak transcription	Gastric	stomach
26	chr12:12664000-12690400	Weak transcription	NHLF	lung
27	chr12:12664400-12670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:12664600-12672600	Weak transcription	Osteobl	bone
29	chr12:12664800-12673600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:12665000-12671800	Weak transcription	NH-A	brain
31	chr12:12665000-12684400	Weak transcription	NHDF-Ad	bronchial
32	chr12:12665000-12685600	Weak transcription	HMEC	breast
33	chr12:12665000-12686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:12665200-12671200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:12665400-12670400	Weak transcription	NHEK	skin
36	chr12:12665600-12671600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:12665800-12678800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:12666400-12670800	Weak transcription	GM12878-XiMat	blood
39	chr12:12666600-12670800	Weak transcription	Aorta	Aorta
40	chr12:12666800-12681200	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:12667000-12674400	Strong transcription	Fetal Thymus	thymus
42	chr12:12667000-12675000	Weak transcription	Spleen	Spleen
43	chr12:12667200-12670400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:12667200-12673000	Strong transcription	Fetal Muscle Leg	muscle
45	chr12:12667400-12671600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:12667400-12672000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:12667400-12686400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:12667600-12671800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:12667600-12671800	Strong transcription	Liver	Liver
50	chr12:12667600-12680800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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