Variant report

Variant	rs34701532
Chromosome Location	chr3:134364129-134364130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11720224	0.80[ASN][1000 genomes]
rs13060869	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13081172	0.94[ASN][1000 genomes]
rs13083717	0.94[ASN][1000 genomes]
rs13085889	0.94[ASN][1000 genomes]
rs13098689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34136671	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60716777	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6762606	0.82[AMR][1000 genomes];1.00[ASN][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	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs34701532	ANAPC13	cis	Esophagus Mucosa	GTEx
rs34701532	ANAPC13	cis	Nerve Tibial	GTEx
rs34701532	CEP63	cis	Esophagus Muscularis	GTEx
rs34701532	ANAPC13	cis	Muscle Skeletal	GTEx
rs34701532	ANAPC13	cis	Artery Tibial	GTEx
rs34701532	ANAPC13	cis	lung	GTEx
rs34701532	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs34701532	ANAPC13	cis	Esophagus Muscularis	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134326000-134364800	Weak transcription	Osteobl	bone
2	chr3:134328200-134368200	Weak transcription	Brain Angular Gyrus	brain
3	chr3:134358200-134368600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:134358400-134368600	Weak transcription	Brain Anterior Caudate	brain
5	chr3:134358400-134368600	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:134358400-134368600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:134358600-134368600	Weak transcription	Brain Substantia Nigra	brain
8	chr3:134359600-134366600	Enhancers	Fetal Heart	heart
9	chr3:134360200-134367400	Genic enhancers	Fetal Muscle Leg	muscle
10	chr3:134360800-134366000	Enhancers	Left Ventricle	heart
11	chr3:134360800-134367600	Enhancers	Right Ventricle	heart
12	chr3:134361200-134365600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:134361600-134369600	Weak transcription	Pancreas	Pancrea
14	chr3:134362200-134368800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:134363000-134364400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:134363000-134364400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr3:134363000-134365200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:134363000-134365400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:134363200-134364200	Enhancers	Fetal Intestine Large	intestine
20	chr3:134363200-134366600	Enhancers	Psoas Muscle	Psoas
21	chr3:134363400-134364400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:134363400-134364400	Enhancers	Fetal Intestine Small	intestine
23	chr3:134363400-134364400	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:134363400-134364400	Enhancers	HSMMtube	muscle
25	chr3:134363400-134364800	Enhancers	Fetal Muscle Trunk	muscle
26	chr3:134363400-134369200	Weak transcription	Adipose Nuclei	Adipose
27	chr3:134363600-134364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:134363600-134364400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:134363600-134364400	Enhancers	HSMM	muscle
30	chr3:134363600-134365000	Enhancers	Right Atrium	heart
31	chr3:134363800-134364200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:134363800-134364400	Enhancers	Brain Cingulate Gyrus	brain
33	chr3:134363800-134364400	Enhancers	Spleen	Spleen
34	chr3:134363800-134369400	Weak transcription	Ovary	ovary
35	chr3:134364000-134364200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:134364000-134364200	Active TSS	Duodenum Mucosa	Duodenum
37	chr3:134364000-134364400	Flanking Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links