Variant report

Variant	rs12372305
Chromosome Location	chr12:123531035-123531036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123517295..123520100-chr12:123529608..123532443,2	K562	blood:
2	chr12:123527596..123531182-chr12:123539339..123542162,4	K562	blood:
3	chr12:123519868..123522613-chr12:123530102..123532042,2	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12313619	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123504400-123540200	Weak transcription	Hela-S3	cervix
2	chr12:123518200-123535600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123518400-123533600	Weak transcription	Aorta	Aorta
4	chr12:123518800-123540600	Weak transcription	HepG2	liver
5	chr12:123519000-123540400	Weak transcription	Gastric	stomach
6	chr12:123519000-123543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:123526000-123531400	Enhancers	Colon Smooth Muscle	Colon
8	chr12:123526400-123531600	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:123526600-123531200	Enhancers	Right Atrium	heart
10	chr12:123526800-123531200	Enhancers	Fetal Heart	heart
11	chr12:123527400-123531400	Enhancers	Fetal Stomach	stomach
12	chr12:123528200-123531200	Enhancers	Right Ventricle	heart
13	chr12:123528200-123542400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:123528400-123534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:123528600-123531400	Enhancers	Ovary	ovary
16	chr12:123528600-123534000	Weak transcription	Fetal Brain Female	brain
17	chr12:123528600-123534000	Weak transcription	Pancreas	Pancrea
18	chr12:123528600-123545800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:123528800-123533800	Weak transcription	HSMMtube	muscle
20	chr12:123528800-123535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:123528800-123541400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:123529000-123533800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:123529000-123534200	Weak transcription	Osteobl	bone
24	chr12:123529000-123534800	Weak transcription	A549	lung
25	chr12:123529000-123535400	Weak transcription	Fetal Intestine Small	intestine
26	chr12:123529000-123540400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:123529200-123531200	Weak transcription	Primary T cells from cord blood	blood
28	chr12:123529200-123533800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:123529200-123533800	Weak transcription	NHDF-Ad	bronchial
30	chr12:123529200-123534000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:123529200-123534200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:123529200-123534400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:123529200-123534400	Weak transcription	NHLF	lung
34	chr12:123529200-123534600	Weak transcription	Adipose Nuclei	Adipose
35	chr12:123529400-123532000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:123529400-123538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:123529400-123544600	Weak transcription	Small Intestine	intestine
38	chr12:123529600-123532000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:123529600-123533800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:123529600-123534000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:123529600-123546200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:123529800-123531200	Weak transcription	Liver	Liver
43	chr12:123529800-123531400	Enhancers	Brain Anterior Caudate	brain
44	chr12:123529800-123531400	Enhancers	Brain Hippocampus Middle	brain
45	chr12:123529800-123531400	Enhancers	Fetal Lung	lung
46	chr12:123529800-123535000	Weak transcription	Spleen	Spleen
47	chr12:123529800-123537800	Genic enhancers	Fetal Thymus	thymus
48	chr12:123529800-123548200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:123530000-123534000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:123530200-123531400	Enhancers	Fetal Brain Male	brain

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