Variant report

Variant	rs12880113
Chromosome Location	chr14:33070570-33070571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10135562	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10141122	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10144339	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10144948	1.00[CEU][hapmap]
rs10147066	0.93[ASN][1000 genomes]
rs10151427	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs1155069	1.00[CEU][hapmap]
rs11626416	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs11846446	0.87[ASN][1000 genomes]
rs12323757	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12323763	0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12323766	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12887176	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17415416	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17506512	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17515243	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1884619	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28401565	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34340539	0.96[ASN][1000 genomes]
rs4981990	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4981991	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71419918	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71419919	0.89[ASN][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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428624	chr14:33065571-33214223	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33057800-33078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:33059400-33072000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:33064000-33071200	Weak transcription	Aorta	Aorta
4	chr14:33064600-33071400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:33064600-33071400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:33064600-33071400	Weak transcription	Left Ventricle	heart
7	chr14:33064600-33071400	Weak transcription	Right Ventricle	heart
8	chr14:33064600-33074600	Weak transcription	Psoas Muscle	Psoas
9	chr14:33064600-33075600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:33064800-33070800	Weak transcription	Fetal Stomach	stomach
11	chr14:33064800-33071000	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:33064800-33071600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:33064800-33079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:33066000-33071200	Weak transcription	NHLF	lung
15	chr14:33067400-33077800	Weak transcription	HSMM	muscle
16	chr14:33067800-33071200	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:33067800-33071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:33068200-33071600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:33068600-33072000	Weak transcription	Brain Angular Gyrus	brain
20	chr14:33069800-33070600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:33069800-33071000	Genic enhancers	Fetal Heart	heart
22	chr14:33069800-33071800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:33069800-33072400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:33069800-33080000	Weak transcription	Fetal Brain Female	brain
25	chr14:33070200-33070800	Strong transcription	Brain Anterior Caudate	brain
26	chr14:33070200-33071000	Enhancers	Colon Smooth Muscle	Colon
27	chr14:33070200-33072400	Enhancers	NHDF-Ad	bronchial
28	chr14:33070200-33072800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:33070400-33070800	Weak transcription	HSMMtube	muscle
30	chr14:33070400-33071800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:33070400-33071800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr14:33070400-33072400	Weak transcription	Brain Germinal Matrix	brain
33	chr14:33070400-33072600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links