Variant report

Variant	rs12304470
Chromosome Location	chr12:51328853-51328854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51320296..51325528-chr12:51326081..51329757,6	K562	blood:
2	chr12:51155577..51158577-chr12:51327388..51330247,3	MCF-7	breast:
3	chr12:51233571..51235108-chr12:51328091..51331063,2	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11169623	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169624	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169628	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169631	1.00[AMR][1000 genomes]
rs11169635	1.00[AMR][1000 genomes]
rs12308376	1.00[YRI][hapmap]
rs12312876	1.00[AMR][1000 genomes]
rs12317669	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317736	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318840	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60895426	1.00[AMR][1000 genomes]
rs73300037	1.00[AMR][1000 genomes]
rs73308088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310014	1.00[AMR][1000 genomes]
rs73310022	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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51319400-51346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51320200-51330600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
4	chr12:51322400-51329000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:51322800-51331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:51323000-51331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
8	chr12:51323400-51330000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:51323400-51330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:51323400-51330800	Weak transcription	Brain Germinal Matrix	brain
11	chr12:51323400-51330800	Weak transcription	Fetal Brain Female	brain
12	chr12:51324200-51331200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:51324400-51331200	Enhancers	Stomach Mucosa	stomach
14	chr12:51324600-51331000	Weak transcription	Lung	lung
15	chr12:51325000-51329800	Enhancers	Fetal Intestine Small	intestine
16	chr12:51325400-51331000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:51326200-51329600	Enhancers	Colon Smooth Muscle	Colon
18	chr12:51326400-51329600	Enhancers	Hela-S3	cervix
19	chr12:51326400-51331000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:51326600-51329400	Enhancers	HMEC	breast
21	chr12:51326600-51329600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:51326800-51329800	Enhancers	Fetal Intestine Large	intestine
23	chr12:51327200-51329400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:51327200-51330800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:51327200-51331400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:51327400-51329400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:51327400-51329400	Enhancers	HSMMtube	muscle
28	chr12:51327400-51331400	Weak transcription	Colonic Mucosa	Colon
29	chr12:51327400-51331400	Enhancers	Placenta	Placenta
30	chr12:51327600-51329000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:51327600-51329600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr12:51327600-51331400	Weak transcription	Brain Angular Gyrus	brain
33	chr12:51327800-51329000	Weak transcription	Fetal Stomach	stomach
34	chr12:51327800-51329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:51327800-51329200	Weak transcription	Esophagus	oesophagus
36	chr12:51327800-51329200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:51327800-51329200	Weak transcription	Left Ventricle	heart
38	chr12:51327800-51329400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:51327800-51331000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:51327800-51331000	Weak transcription	Thymus	Thymus
41	chr12:51327800-51331200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:51327800-51331200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:51328000-51329000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr12:51328000-51329200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:51328000-51329200	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:51328000-51329200	Enhancers	NHLF	lung
47	chr12:51328000-51329400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:51328000-51329400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:51328000-51329400	Weak transcription	Right Ventricle	heart
50	chr12:51328000-51329400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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