Variant report

Variant	rs12297832
Chromosome Location	chr12:50865772-50865773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083076	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11169403	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12298057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302910	1.00[AMR][1000 genomes]
rs12308132	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12308735	1.00[AMR][1000 genomes]
rs12312142	1.00[AMR][1000 genomes]
rs12312218	1.00[AMR][1000 genomes]
rs12314391	1.00[AMR][1000 genomes]
rs12317780	1.00[AMR][1000 genomes]
rs12318245	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4334109	1.00[MEX][hapmap]
rs7298085	1.00[AMR][1000 genomes]
rs7305783	1.00[AMR][1000 genomes]
rs7966009	1.00[MEX][hapmap]
rs9651998	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
3	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:50819800-50867400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:50820000-50867200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:50825800-50873000	Strong transcription	Liver	Liver
10	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
11	chr12:50828000-50867200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:50836400-50866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:50836600-50870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:50836800-50867400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:50839000-50869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:50844400-50872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:50846200-50873000	Strong transcription	Adipose Nuclei	Adipose
21	chr12:50846800-50872000	Weak transcription	Fetal Heart	heart
22	chr12:50849200-50878000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:50850000-50871600	Weak transcription	Small Intestine	intestine
24	chr12:50851200-50870800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:50851800-50872600	Strong transcription	Dnd41	blood
26	chr12:50852200-50871000	Strong transcription	Fetal Thymus	thymus
27	chr12:50852400-50866800	Weak transcription	NH-A	brain
28	chr12:50852400-50872200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:50852400-50872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:50852600-50873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:50853000-50870800	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:50853000-50871400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:50853200-50867400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:50853800-50871400	Strong transcription	Osteobl	bone
35	chr12:50853800-50872600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:50854200-50873000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:50854800-50869800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:50855000-50870800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:50856200-50872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:50856200-50872400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:50857000-50866200	Weak transcription	HMEC	breast
42	chr12:50857600-50872400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:50857800-50867800	Weak transcription	Esophagus	oesophagus
44	chr12:50857800-50872600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:50858000-50868000	Weak transcription	Aorta	Aorta
46	chr12:50858000-50868200	Weak transcription	Gastric	stomach
47	chr12:50858000-50869600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:50858000-50870800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:50858200-50871600	Weak transcription	Spleen	Spleen
50	chr12:50858400-50867000	Weak transcription	Colon Smooth Muscle	Colon

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