Variant report

Variant	rs13081172
Chromosome Location	chr3:134360579-134360580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134353630..134356773-chr3:134359972..134362258,3	MCF-7	breast:
2	chr3:134317769..134318676-chr3:134359954..134360736,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13060869	0.94[ASN][1000 genomes]
rs13071253	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13075332	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13083717	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085889	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13098689	0.94[ASN][1000 genomes]
rs34136671	0.94[ASN][1000 genomes]
rs34701532	0.94[ASN][1000 genomes]
rs60716777	0.94[ASN][1000 genomes]
rs6762606	0.94[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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs13081172	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs13081172	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs13081172	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs13081172	ANAPC13	cis	multi-tissue	Pritchard
rs13081172	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs13081172	CEP63	cis	Esophagus Muscularis	GTEx
rs13081172	ANAPC13	cis	Esophagus Mucosa	GTEx
rs13081172	KY	cis	cerebellar cortex	BrainEAC
rs13081172	ANAPC13	cis	lung	GTEx
rs13081172	ANAPC13	cis	Esophagus Muscularis	GTEx
rs13081172	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs13081172	ANAPC13	cis	Artery Tibial	GTEx
rs13081172	ANAPC13	cis	Nerve Tibial	GTEx
rs13081172	CEP63	cis	Esophagus Mucosa	GTEx
rs13081172	CEP63	cis	Artery Tibial	GTEx
rs13081172	ANAPC13	cis	Muscle Skeletal	GTEx

Chromatin state (count:23 , 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	chr3:134330600-134360800	Weak transcription	Right Ventricle	heart
4	chr3:134348200-134363800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:134348400-134360800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:134354200-134361200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:134355600-134363200	Weak transcription	Psoas Muscle	Psoas
8	chr3:134356200-134361600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:134356800-134363400	Weak transcription	Fetal Intestine Small	intestine
10	chr3:134358200-134360800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:134358200-134368600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:134358400-134363400	Weak transcription	HSMMtube	muscle
13	chr3:134358400-134368600	Weak transcription	Brain Anterior Caudate	brain
14	chr3:134358400-134368600	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:134358400-134368600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:134358600-134368600	Weak transcription	Brain Substantia Nigra	brain
17	chr3:134359600-134366600	Enhancers	Fetal Heart	heart
18	chr3:134359800-134360800	Enhancers	Fetal Muscle Trunk	muscle
19	chr3:134359800-134361200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:134360200-134361200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr3:134360200-134363600	Weak transcription	Right Atrium	heart
22	chr3:134360200-134367400	Genic enhancers	Fetal Muscle Leg	muscle
23	chr3:134360400-134361000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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