Variant report

Variant	rs12296335
Chromosome Location	chr12:56991383-56991384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56989910..56991430-chr15:39994772..39997768,2	K562	blood:
2	chr12:56989873..56991383-chr15:39992356..39994081,2	K562	blood:
3	chr12:56990818..56993211-chr12:57006081..57007735,2	MCF-7	breast:
4	chr12:56989810..56992363-chr12:57017983..57019817,2	K562	blood:
5	chr12:56990898..56994396-chr12:56995089..56998890,5	K562	blood:
6	chr12:56988299..56991768-chr12:57027062..57029523,3	MCF-7	breast:
7	chr12:56991013..56993546-chr12:56999822..57001815,2	K562	blood:
8	chr12:56988887..56992620-chr12:56993590..56996069,4	MCF-7	breast:
9	chr12:56984135..56986592-chr12:56989665..56992269,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000076108	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10876912	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11171909	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11171910	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12312913	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12314491	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12321649	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1527140	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59711560	0.86[EUR][1000 genomes]
rs7958539	0.86[AMR][1000 genomes]
rs941210	0.86[AMR][1000 genomes];0.86[EUR][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	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1043992	chr12:56976326-57010458	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
2	chr12:56964200-56992600	Weak transcription	Stomach Mucosa	stomach
3	chr12:56975800-56991600	Weak transcription	Small Intestine	intestine
4	chr12:56977600-57017000	Strong transcription	Placenta	Placenta
5	chr12:56979600-57020400	Strong transcription	Fetal Stomach	stomach
6	chr12:56987600-57012000	Strong transcription	Liver	Liver
7	chr12:56987600-57014800	Strong transcription	Adipose Nuclei	Adipose
8	chr12:56987600-57021000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:56988000-56991800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56988200-57000400	Strong transcription	Hela-S3	cervix
11	chr12:56988200-57001200	Strong transcription	Primary T cells from cord blood	blood
12	chr12:56988200-57010800	Weak transcription	Right Atrium	heart
13	chr12:56988200-57011400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:56988200-57011600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr12:56988200-57015600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:56988400-56992000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:56988400-56992000	Weak transcription	NH-A	brain
18	chr12:56988400-56992200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:56988400-56992200	Weak transcription	K562	blood
20	chr12:56988400-56993600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:56988400-57001000	Strong transcription	NHLF	lung
22	chr12:56988400-57001600	Strong transcription	A549	lung
23	chr12:56988400-57010800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:56988400-57011400	Strong transcription	Brain Germinal Matrix	brain
25	chr12:56988400-57016600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:56988400-57017400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:56988400-57018000	Strong transcription	Fetal Intestine Small	intestine
28	chr12:56988400-57018400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:56988400-57021600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:56988600-56991400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:56988600-56992000	Weak transcription	HMEC	breast
32	chr12:56988600-56993600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:56988600-57000400	Strong transcription	HSMM	muscle
34	chr12:56988600-57001200	Strong transcription	NHEK	skin
35	chr12:56988600-57001800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr12:56988600-57005200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:56988600-57010800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:56988600-57010800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:56988600-57012000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:56988600-57017200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr12:56988800-56995200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:56988800-57011400	Strong transcription	Lung	lung
43	chr12:56988800-57011800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:56988800-57012000	Strong transcription	NHDF-Ad	bronchial
45	chr12:56988800-57015200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:56988800-57017600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:56988800-57021600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:56989000-56993400	Weak transcription	Fetal Kidney	kidney
49	chr12:56989000-56993600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:56989000-56996000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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