Variant report

Variant	rs73308088
Chromosome Location	chr12:51327737-51327738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51325095..51327824-chr12:51330132..51332828,3	K562	blood:
2	chr12:51320296..51325528-chr12:51326081..51329757,6	K562	blood:
3	chr12:51155577..51158577-chr12:51327388..51330247,3	MCF-7	breast:
4	chr12:51325095..51328187-chr12:51330132..51332748,3	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

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]
rs12304470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
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]
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:99 , 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	chr12:51320400-51328600	Weak transcription	HSMM	muscle
4	chr12:51320600-51328200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:51322200-51332600	Weak transcription	Fetal Kidney	kidney
6	chr12:51322400-51327800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:51322400-51329000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:51322800-51328200	Weak transcription	NHEK	skin
9	chr12:51322800-51331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:51323000-51327800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:51323000-51331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
13	chr12:51323200-51328000	Weak transcription	NHLF	lung
14	chr12:51323400-51330000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:51323400-51330800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:51323400-51330800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:51323400-51330800	Weak transcription	Fetal Brain Female	brain
18	chr12:51323600-51328200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:51323600-51328400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:51323800-51328000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr12:51324000-51328000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:51324200-51331200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:51324400-51331200	Enhancers	Stomach Mucosa	stomach
24	chr12:51324600-51331000	Weak transcription	Lung	lung
25	chr12:51324800-51328200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:51325000-51329800	Enhancers	Fetal Intestine Small	intestine
27	chr12:51325200-51328800	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr12:51325400-51331000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:51325600-51328400	Genic enhancers	Primary B cells from cord blood	blood
30	chr12:51325600-51328400	Enhancers	Small Intestine	intestine
31	chr12:51325800-51327800	Genic enhancers	Rectal Mucosa Donor 29	rectum
32	chr12:51325800-51328200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:51325800-51328400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:51326000-51328200	Genic enhancers	Adipose Nuclei	Adipose
35	chr12:51326200-51329600	Enhancers	Colon Smooth Muscle	Colon
36	chr12:51326400-51327800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr12:51326400-51328000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
38	chr12:51326400-51328400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:51326400-51328600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:51326400-51329600	Enhancers	Hela-S3	cervix
41	chr12:51326400-51331000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr12:51326600-51328200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:51326600-51328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:51326600-51329400	Enhancers	HMEC	breast
45	chr12:51326600-51329600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:51326800-51328000	Enhancers	Fetal Thymus	thymus
47	chr12:51326800-51329800	Enhancers	Fetal Intestine Large	intestine
48	chr12:51327000-51327800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:51327000-51327800	Genic enhancers	Brain Hippocampus Middle	brain
50	chr12:51327000-51327800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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