Variant report

Variant	rs12310473
Chromosome Location	chr12:117400819-117400820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117394664..117397390-chr12:117400472..117403185,2	K562	blood:
2	chr12:117395564..117397390-chr12:117400429..117403185,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11068227	1.00[AMR][1000 genomes]
rs11068229	1.00[AMR][1000 genomes]
rs11068244	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11068257	1.00[AMR][1000 genomes]
rs11068261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11068284	0.85[YRI][hapmap];0.92[AFR][1000 genomes]
rs11068291	1.00[AMR][1000 genomes]
rs12296579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297294	1.00[AMR][1000 genomes]
rs12299197	1.00[AMR][1000 genomes]
rs12299208	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300945	1.00[YRI][hapmap]
rs12303371	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304848	1.00[AMR][1000 genomes]
rs12306116	1.00[AMR][1000 genomes]
rs12307625	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308160	1.00[AMR][1000 genomes]
rs12308162	1.00[AMR][1000 genomes]
rs12309933	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12309993	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311443	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313091	1.00[AMR][1000 genomes]
rs12316781	1.00[AMR][1000 genomes]
rs12319981	1.00[AMR][1000 genomes]
rs12322115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61193113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7300401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7309550	1.00[YRI][hapmap];0.91[AFR][1000 genomes];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	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117365000-117406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:117382600-117408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:117384400-117411200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:117384800-117402200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:117384800-117407400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:117384800-117411000	Weak transcription	Hela-S3	cervix
8	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:117385200-117406200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:117385200-117410200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:117385200-117410600	Weak transcription	Fetal Kidney	kidney
12	chr12:117385800-117408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:117386000-117402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:117386000-117404200	Weak transcription	HepG2	liver
15	chr12:117386000-117405000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:117387600-117402000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:117387600-117402200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:117387800-117401400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:117387800-117402400	Weak transcription	Esophagus	oesophagus
20	chr12:117387800-117402400	Weak transcription	NHEK	skin
21	chr12:117387800-117404200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:117387800-117407000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:117387800-117407400	Weak transcription	Aorta	Aorta
24	chr12:117387800-117463600	Weak transcription	HMEC	breast
25	chr12:117388000-117402400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:117388000-117402800	Weak transcription	NHDF-Ad	bronchial
27	chr12:117388200-117401400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:117389600-117402200	Weak transcription	Placenta	Placenta
29	chr12:117389800-117402800	Weak transcription	NH-A	brain
30	chr12:117390000-117402400	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:117390200-117402000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:117390200-117402400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:117390400-117401800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:117390400-117402200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:117390400-117402400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:117391000-117401800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:117391400-117401600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:117391400-117402000	Weak transcription	Fetal Intestine Large	intestine
39	chr12:117393000-117402400	Weak transcription	HUVEC	blood vessel
40	chr12:117393000-117407600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:117393400-117402400	Weak transcription	Liver	Liver
42	chr12:117393800-117402200	Weak transcription	Fetal Lung	lung
43	chr12:117393800-117402400	Weak transcription	Ovary	ovary
44	chr12:117393800-117402400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:117393800-117403000	Weak transcription	Brain Anterior Caudate	brain
46	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
47	chr12:117394000-117401600	Weak transcription	A549	lung
48	chr12:117394600-117415400	Weak transcription	HSMMtube	muscle
49	chr12:117396200-117402200	Enhancers	Stomach Mucosa	stomach
50	chr12:117396400-117402000	Weak transcription	Adipose Nuclei	Adipose

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