Variant report

Variant	rs11050171
Chromosome Location	chr12:29432481-29432482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11050234	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs11050242	0.88[CHB][hapmap]
rs11050243	0.86[CHB][hapmap]
rs11610542	0.82[CEU][hapmap]
rs11613142	0.82[CEU][hapmap]
rs11614232	0.82[CEU][hapmap]
rs11831165	0.88[CHB][hapmap]
rs2012291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288127	0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs3741751	0.88[CHB][hapmap]
rs3764951	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs3782512	0.82[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs4280037	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs4992973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55805826	0.88[EUR][1000 genomes]
rs56161636	0.88[EUR][1000 genomes]
rs6487810	0.80[EUR][1000 genomes]
rs6487827	0.82[CEU][hapmap]
rs7138160	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7139305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294517	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes]
rs7296302	0.88[CHB][hapmap]
rs7302425	0.88[CHB][hapmap]
rs7302549	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs7306407	0.88[CHB][hapmap]
rs7310802	0.88[EUR][1000 genomes]
rs7311051	0.86[CHB][hapmap]
rs7312547	0.82[CEU][hapmap]
rs7314716	0.88[EUR][1000 genomes]
rs7953090	0.88[EUR][1000 genomes]
rs7953237	0.88[CHB][hapmap]
rs7964648	0.88[CHB][hapmap]
rs7964728	0.88[CHB][hapmap]
rs7964979	0.88[CHB][hapmap]
rs7965132	0.88[CHB][hapmap]
rs7965185	0.86[CHB][hapmap]
rs7967676	0.82[CEU][hapmap]
rs7975356	0.88[CHB][hapmap]
rs878837	0.88[CHB][hapmap]
rs880267	0.88[CHB][hapmap]

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	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

No data

Chromatin state (count:44 , 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	chr12:29420400-29435000	Weak transcription	HUVEC	blood vessel
4	chr12:29422000-29455600	Weak transcription	Left Ventricle	heart
5	chr12:29422000-29465000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:29422200-29434800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:29422400-29434400	Weak transcription	Fetal Kidney	kidney
8	chr12:29424600-29435200	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:29424800-29433400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:29424800-29434800	Weak transcription	Dnd41	blood
11	chr12:29425000-29434400	Weak transcription	Fetal Stomach	stomach
12	chr12:29425200-29435600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:29426600-29434400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:29426600-29440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:29426800-29433600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:29426800-29436200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:29426800-29440600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:29426800-29472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:29427000-29433600	Weak transcription	Spleen	Spleen
20	chr12:29427000-29435200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:29427000-29452200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:29427200-29527400	Weak transcription	Small Intestine	intestine
23	chr12:29427800-29438400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:29428600-29434200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:29429000-29433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:29429000-29460200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:29429200-29463600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:29429400-29460400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:29430200-29432600	Enhancers	NH-A	brain
30	chr12:29430200-29432800	Enhancers	NHDF-Ad	bronchial
31	chr12:29431200-29432800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:29431200-29433400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:29431400-29432600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:29431400-29432600	Enhancers	HSMM	muscle
35	chr12:29431400-29432800	Enhancers	Osteobl	bone
36	chr12:29431400-29433400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:29431600-29432600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:29431800-29432800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:29431800-29434800	Weak transcription	HSMMtube	muscle
40	chr12:29432000-29432800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:29432200-29432800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:29432200-29442800	Weak transcription	Psoas Muscle	Psoas
43	chr12:29432400-29434400	Weak transcription	Adipose Nuclei	Adipose
44	chr12:29432400-29438400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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