Variant report

Variant	rs13089566
Chromosome Location	chr3:134349710-134349711
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr3:134349492-134350112	U2OS	brain:	n/a	n/a
2	CTCF	chr3:134349321-134349820	HCT-116	colon:	n/a	n/a
3	CTCF	chr3:134349292-134349770	MCF-7	breast:	n/a	n/a
4	CTCF	chr3:134349419-134349711	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr3:134349361-134349741	ECC-1	luminal epithelium:	n/a	n/a
6	RAD21	chr3:134349340-134349712	ECC-1	luminal epithelium:	n/a	n/a
7	RAD21	chr3:134349313-134349714	HepG2	liver:	n/a	n/a
8	RAD21	chr3:134349240-134349810	HCT-116	colon:	n/a	n/a
9	RAD21	chr3:134349289-134349783	HCT-116	colon:	n/a	n/a
10	RAD21	chr3:134349299-134349796	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134349096..134349842-chr3:134472731..134473497,2	MCF-7	breast:
2	chr3:134349175..134349761-chr3:134396148..134396764,2	MCF-7	breast:
3	chr3:134349069..134350003-chr3:134473721..134474764,6	MCF-7	breast:
4	chr3:134349144..134349861-chr3:134395786..134396363,2	MCF-7	breast:
5	chr3:134349040..134350145-chr3:134359403..134360432,7	MCF-7	breast:

No data

Variant related genes	Relation type
KY	TF binding region

Extended variants
information (count: 176 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:168)

rs_ID	r²[population]
rs10804632	0.89[EUR][1000 genomes]
rs10935120	0.91[CEU][hapmap]
rs10935123	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1138273	0.92[CEU][hapmap]
rs11708531	0.91[CEU][hapmap]
rs11915964	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11919350	0.92[CEU][hapmap]
rs11919458	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11927539	0.81[EUR][1000 genomes]
rs11927540	0.80[EUR][1000 genomes]
rs12490835	0.91[CEU][hapmap]
rs12492930	0.92[CEU][hapmap]
rs12637301	0.81[EUR][1000 genomes]
rs12637751	0.91[CEU][hapmap]
rs13064209	0.81[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13071551	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13075117	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13075253	0.81[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13076825	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13084192	0.81[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13088413	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13096604	0.92[CEU][hapmap]
rs13098546	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13322305	0.91[EUR][1000 genomes]
rs1357762	0.92[CEU][hapmap]
rs1357764	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1404289	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1498718	0.91[CEU][hapmap]
rs1534025	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1534029	0.86[EUR][1000 genomes]
rs1534030	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs17694011	0.87[CEU][hapmap]
rs1814336	0.95[CEU][hapmap]
rs1814337	0.88[CEU][hapmap]
rs1863913	0.91[CEU][hapmap]
rs1874883	0.91[CEU][hapmap]
rs1880374	0.81[EUR][1000 genomes]
rs1880375	0.81[EUR][1000 genomes]
rs1880376	0.92[CEU][hapmap]
rs1880378	0.86[EUR][1000 genomes]
rs1880379	0.86[EUR][1000 genomes]
rs1917130	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2056603	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs2056604	0.91[EUR][1000 genomes]
rs2241556	0.91[CEU][hapmap]
rs2293293	0.81[EUR][1000 genomes]
rs2293294	0.82[EUR][1000 genomes]
rs2887797	0.92[CEU][hapmap]
rs2888670	0.82[EUR][1000 genomes]
rs3932818	0.87[CEU][hapmap]
rs4074521	0.82[EUR][1000 genomes]
rs4074522	0.82[EUR][1000 genomes]
rs4074523	0.82[EUR][1000 genomes]
rs4245903	0.81[EUR][1000 genomes]
rs4245904	0.81[EUR][1000 genomes]
rs4245905	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs4245907	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4245908	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4306899	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4306900	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4318591	0.86[EUR][1000 genomes]
rs4435681	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4435682	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4437193	0.85[CEU][hapmap];0.92[CHB][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4456908	0.88[EUR][1000 genomes]
rs4498009	0.92[CEU][hapmap]
rs4519744	0.81[EUR][1000 genomes]
rs4535271	0.81[EUR][1000 genomes]
rs4539979	0.92[CEU][hapmap]
rs4543053	0.88[CEU][hapmap];0.92[CHB][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4605591	0.86[EUR][1000 genomes]
rs4634170	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4955468	0.88[EUR][1000 genomes]
rs4955485	0.89[EUR][1000 genomes]
rs4955525	0.81[EUR][1000 genomes]
rs4955526	0.81[EUR][1000 genomes]
rs4955534	0.81[EUR][1000 genomes]
rs4955542	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs4955544	0.87[EUR][1000 genomes]
rs4955545	0.86[EUR][1000 genomes]
rs4955546	0.83[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4955547	0.83[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4955548	0.83[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4955555	0.91[CEU][hapmap]
rs4974480	0.88[CEU][hapmap]
rs55835132	0.82[EUR][1000 genomes]
rs56899746	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58491661	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58808286	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62269560	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6439484	0.92[CEU][hapmap]
rs6763088	0.92[CEU][hapmap]
rs6763188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6764764	0.83[CEU][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6766897	0.92[CEU][hapmap]
rs6768323	0.92[CEU][hapmap]
rs6769885	0.87[CEU][hapmap]
rs6772896	0.91[CEU][hapmap]
rs6775611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6779294	0.86[EUR][1000 genomes]
rs6779326	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs6782563	0.89[EUR][1000 genomes]
rs6785027	0.91[CEU][hapmap]
rs6793487	0.89[EUR][1000 genomes]
rs6794258	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6800862	0.87[CEU][hapmap]
rs6804770	0.92[CEU][hapmap]
rs6805388	0.87[CEU][hapmap]
rs6806417	0.91[CEU][hapmap]
rs6806810	0.82[EUR][1000 genomes]
rs7356093	0.92[CEU][hapmap]
rs7371896	0.92[CEU][hapmap]
rs7374325	0.92[CEU][hapmap]
rs7427492	0.92[CEU][hapmap]
rs7430034	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs7433991	0.91[EUR][1000 genomes]
rs7611611	0.91[EUR][1000 genomes]
rs7619451	0.91[CEU][hapmap]
rs7623567	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs7626557	0.81[EUR][1000 genomes]
rs7630874	0.91[CEU][hapmap]
rs7633868	0.86[EUR][1000 genomes]
rs7637801	0.91[JPT][hapmap]
rs7641798	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7642266	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7648616	0.81[EUR][1000 genomes]
rs7653807	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7653880	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs766492	0.90[JPT][hapmap]
rs9289471	0.91[CEU][hapmap]
rs9289476	0.92[CEU][hapmap]
rs9289478	0.91[CEU][hapmap]
rs934093	0.83[CEU][hapmap]
rs9756173	0.85[EUR][1000 genomes]
rs9809344	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs9809619	0.91[CEU][hapmap]
rs9813774	0.92[CEU][hapmap]
rs9814567	0.91[CEU][hapmap]
rs9824185	0.82[EUR][1000 genomes]
rs9828815	0.92[CEU][hapmap]
rs9835204	0.91[CEU][hapmap]
rs9836401	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs9838119	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs9838467	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs9838621	0.86[EUR][1000 genomes]
rs9838889	0.86[EUR][1000 genomes]
rs9839705	0.82[EUR][1000 genomes]
rs9841180	0.92[CEU][hapmap]
rs9841212	0.91[CEU][hapmap]
rs9841371	0.81[EUR][1000 genomes]
rs9846111	0.87[EUR][1000 genomes]
rs9847788	0.92[CEU][hapmap]
rs9848254	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs9851441	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs9854299	0.92[CEU][hapmap]
rs9855013	0.92[CEU][hapmap]
rs9857242	0.81[EUR][1000 genomes]
rs9857995	0.81[EUR][1000 genomes]
rs9864346	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs9871226	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs9876658	0.91[CEU][hapmap]
rs9883753	0.95[CEU][hapmap]
rs9883955	0.90[JPT][hapmap]
rs9968172	0.91[CEU][hapmap]
rs9985341	0.92[CEU][hapmap]
rs9985356	0.91[CEU][hapmap]
rs9989967	0.91[CEU][hapmap]
rs9990351	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh 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	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
4	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
5	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
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' 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
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv520371	chr3:134344694-134351724	ZNF genes & repeats Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs13089566	ANAPC13	cis	Esophagus Muscularis	GTEx
rs13089566	CEP63	cis	Skin Sun Exposed Lower leg	GTEx
rs13089566	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs13089566	ANAPC13	cis	normal skin	skin_eQTL
rs13089566	ANAPC13	cis	multi-tissue	Pritchard
rs13089566	ANAPC13	cis	Heart Left Ventricle	GTEx
rs13089566	ANAPC13	cis	Esophagus Mucosa	GTEx
rs13089566	ANAPC13	cis	lung	GTEx
rs13089566	ANAPC13	cis	Artery Aorta	GTEx
rs13089566	ANAPC13	cis	Artery Tibial	GTEx
rs13089566	ANAPC13	cis	lesional skin	skin_eQTL
rs13089566	CEP63	cis	Artery Tibial	GTEx
rs13089566	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs13089566	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs13089566	ANAPC13	cis	Nerve Tibial	GTEx
rs13089566	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs13089566	ANAPC13	cis	Thyroid	GTEx
rs13089566	CEP63	cis	lung	GTEx
rs13089566	CEP63	cis	Esophagus Mucosa	GTEx
rs13089566	ANAPC13	cis	Muscle Skeletal	GTEx
rs13089566	ANAPC13	cis	Stomach	GTEx
rs13089566	CEP63	cis	Esophagus Muscularis	GTEx
rs13089566	ANAPC13	cis	uninvolved skin	skin_eQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134319800-134353800	Weak transcription	Left Ventricle	heart
2	chr3:134326000-134364800	Weak transcription	Osteobl	bone
3	chr3:134328200-134368200	Weak transcription	Brain Angular Gyrus	brain
4	chr3:134330200-134356800	Weak transcription	Fetal Heart	heart
5	chr3:134330600-134360800	Weak transcription	Right Ventricle	heart
6	chr3:134335000-134358800	Weak transcription	Aorta	Aorta
7	chr3:134337400-134356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:134339000-134358000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:134348000-134359800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:134348200-134363800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:134348400-134360800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:134349200-134350000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
13	chr3:134349400-134349800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr3:134349600-134357400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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