Variant report

Variant	rs12304807
Chromosome Location	chr12:117591306-117591307
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	chr12:117589065..117590873-chr12:117591170..117593716,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12301961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12310638	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61044549	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71444609	1.00[EUR][1000 genomes]
rs7305302	1.00[EUR][1000 genomes]
rs73408540	1.00[EUR][1000 genomes]
rs7969053	1.00[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117572400-117596000	Weak transcription	Fetal Brain Male	brain
2	chr12:117578200-117617200	Strong transcription	Fetal Stomach	stomach
3	chr12:117578600-117591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:117579000-117618200	Strong transcription	Thymus	Thymus
5	chr12:117579200-117602600	Weak transcription	Psoas Muscle	Psoas
6	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
7	chr12:117579400-117616800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:117579600-117591800	Weak transcription	NH-A	brain
9	chr12:117580000-117593400	Weak transcription	Small Intestine	intestine
10	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:117580400-117593600	Weak transcription	HSMM	muscle
13	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:117581200-117618400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:117581600-117593000	Strong transcription	Fetal Intestine Large	intestine
20	chr12:117581600-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:117581800-117591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:117582000-117593200	Strong transcription	Fetal Intestine Small	intestine
23	chr12:117582000-117613200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:117582200-117606200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:117582200-117623400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:117582400-117594000	Strong transcription	Gastric	stomach
28	chr12:117582400-117624400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:117582600-117608400	Strong transcription	Liver	Liver
30	chr12:117584000-117591600	Weak transcription	Fetal Kidney	kidney
31	chr12:117584000-117595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:117584200-117592200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr12:117584600-117591800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr12:117585600-117619000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:117585600-117619800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:117585800-117600600	Strong transcription	Primary B cells from cord blood	blood
37	chr12:117585800-117602800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:117586800-117596000	Strong transcription	Hela-S3	cervix
40	chr12:117587000-117592000	Weak transcription	HUVEC	blood vessel
41	chr12:117587000-117592600	Weak transcription	NHDF-Ad	bronchial
42	chr12:117587000-117593400	Strong transcription	Esophagus	oesophagus
43	chr12:117588400-117592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:117588600-117591600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:117588600-117591800	Weak transcription	Colon Smooth Muscle	Colon
46	chr12:117588600-117592600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr12:117588600-117592800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:117588800-117591600	Weak transcription	Osteobl	bone
49	chr12:117588800-117591800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:117588800-117618800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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