Variant report

Variant	rs2012291
Chromosome Location	chr12:29428422-29428423
allele	G/T
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:15)

rs_ID	r²[population]
rs11050171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288127	0.91[EUR][1000 genomes]
rs3764951	0.87[EUR][1000 genomes]
rs3782512	0.91[EUR][1000 genomes]
rs4280037	0.91[EUR][1000 genomes]
rs4992973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55805826	0.91[EUR][1000 genomes]
rs56161636	0.91[EUR][1000 genomes]
rs6487810	0.83[EUR][1000 genomes]
rs7138160	0.91[EUR][1000 genomes]
rs7139305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294517	0.91[EUR][1000 genomes]
rs7310802	0.91[EUR][1000 genomes]
rs7314716	0.91[EUR][1000 genomes]
rs7953090	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3372345	chr12:29425485-29430283	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29414400-29434000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:29417200-29465400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29419200-29430600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:29419800-29430400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:29420400-29435000	Weak transcription	HUVEC	blood vessel
6	chr12:29420600-29431600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:29421000-29432000	Weak transcription	Adipose Nuclei	Adipose
8	chr12:29422000-29455600	Weak transcription	Left Ventricle	heart
9	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr12:29422200-29430400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:29422200-29434800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:29422400-29434400	Weak transcription	Fetal Kidney	kidney
13	chr12:29424600-29435200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:29424800-29433400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:29424800-29434800	Weak transcription	Dnd41	blood
16	chr12:29425000-29434400	Weak transcription	Fetal Stomach	stomach
17	chr12:29425200-29435600	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:29426200-29428600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:29426200-29430600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:29426200-29430800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:29426600-29429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:29426600-29429600	Weak transcription	Lung	lung
23	chr12:29426600-29430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:29426600-29431400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:29426600-29434400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:29426600-29440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:29426800-29428600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:29426800-29430400	Weak transcription	Fetal Intestine Small	intestine
29	chr12:29426800-29432200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:29426800-29433600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:29426800-29436200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:29426800-29440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:29427000-29428600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:29427000-29431200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:29427000-29433600	Weak transcription	Spleen	Spleen
37	chr12:29427000-29435200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:29427000-29452200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
40	chr12:29427600-29429000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:29427800-29432000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:29427800-29438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:29428000-29430200	Weak transcription	NH-A	brain
44	chr12:29428400-29429000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:29428400-29429000	Strong transcription	Primary T cells from cord blood	blood
46	chr12:29428400-29429400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links