Variant report

Variant	rs12423951
Chromosome Location	chr12:29802813-29802814
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10734775	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2033026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7314058	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
2	chr12:29785400-29816000	Weak transcription	Esophagus	oesophagus
3	chr12:29786400-29803200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:29792000-29820800	Weak transcription	Spleen	Spleen
5	chr12:29793400-29826200	Weak transcription	NHLF	lung
6	chr12:29793600-29815600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:29794000-29820000	Weak transcription	Brain Anterior Caudate	brain
8	chr12:29794200-29808800	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:29794200-29809600	Weak transcription	Fetal Heart	heart
10	chr12:29794200-29814800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr12:29794200-29815600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29794200-29815800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:29794200-29825600	Weak transcription	Fetal Stomach	stomach
14	chr12:29794200-29825600	Weak transcription	HMEC	breast
15	chr12:29794400-29803200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:29794400-29803600	Weak transcription	HSMM	muscle
17	chr12:29794400-29805000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:29794400-29808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:29794400-29808800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:29794400-29809600	Weak transcription	HSMMtube	muscle
21	chr12:29794400-29811400	Weak transcription	Aorta	Aorta
22	chr12:29794400-29815600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:29794400-29819800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:29794400-29831800	Weak transcription	Ovary	ovary
25	chr12:29794600-29803400	Weak transcription	Adipose Nuclei	Adipose
26	chr12:29794600-29804800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:29794600-29806800	Weak transcription	Right Ventricle	heart
28	chr12:29794800-29825600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
30	chr12:29798400-29811600	Weak transcription	NHDF-Ad	bronchial
31	chr12:29799600-29804800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:29800400-29803400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:29800400-29806400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr12:29800400-29808600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:29800600-29804200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:29800800-29805800	Strong transcription	Left Ventricle	heart
37	chr12:29801000-29807400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:29801000-29807600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:29801200-29804800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:29801400-29805600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:29802200-29803200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:29802200-29808600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:29802400-29803400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr12:29802600-29803600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:29802600-29803800	Enhancers	Psoas Muscle	Psoas

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