Variant report

Variant	rs60716777
Chromosome Location	chr3:134373304-134373305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:134373303-134373353	AG04450	lung:	fetal
2	chr3:134373303-134373353	HRCEpiC	kidney:	n/a
3	chr3:134373303-134373353	HL-60	blood:	n/a
4	chr3:134373303-134373353	NHDF-neo	bronchial:	n/a
5	chr3:134373303-134373353	HEEpiC	esophagus:	n/a
6	chr3:134373303-134373353	HAEpiC	amniotic membrane:	n/a
7	chr3:134373303-134373353	AG09309	skin:	n/a
8	chr3:134373303-134373353	PFSK-1	brain:	n/a
9	chr3:134373303-134373353	SK-N-SH	brain:	n/a
10	chr3:134373303-134373353	HRE	kidney:	n/a
11	chr3:134373303-134373353	IMR90	lung:	fetal
12	chr3:134373303-134373353	SK-N-SH_RA	brain:	n/a
13	chr3:134373303-134373353	HEK293	kidney:	embryo
14	chr3:134373303-134373353	NHBE	bronchial:	n/a
15	chr3:134373303-134373353	A549	lung:	n/a
16	chr3:134373303-134373353	AoSMC	blood vessel:	n/a
17	chr3:134373303-134373353	T-47D	breast:	n/a
18	chr3:134373303-134373353	Jurkat	blood:	n/a
19	chr3:134373303-134373353	Hepatocyte	liver:	n/a
20	chr3:134373303-134373353	NT2-D1	testis:	n/a
21	chr3:134373303-134373353	ProgFib	skin:	n/a
22	chr3:134373303-134373353	Caco-2	colon:	n/a
23	chr3:134373303-134373353	NB4	blood:	n/a
24	chr3:134373303-134373353	HRPEpiC	eye:	n/a
25	chr3:134373303-134373353	MCF10A-Er-Src	breast:	n/a
26	chr3:134373303-134373353	ovcar-3	ovarian:	n/a
27	chr3:134373303-134373353	U87	brain:	n/a
28	chr3:134373303-134373353	GM12878	blood:	n/a
29	chr3:134373303-134373353	HNPCEpiC	eye:	n/a
30	chr3:134373303-134373353	HPAEpiC	pulmonary alveolar:	n/a
31	chr3:134373303-134373353	BE2_C	brain:	n/a
32	chr3:134373303-134373353	AG10803	skin:	n/a
33	chr3:134373303-134373353	HIPEpiC	eye:	n/a
34	chr3:134373303-134373353	MCF-7	breast:	n/a
35	chr3:134373303-134373353	BJ	skin:	n/a
36	chr3:134373303-134373353	GM12891	blood:	n/a
37	chr3:134373303-134373353	HCF	heart:	n/a
38	chr3:134373303-134373353	RPTEC	kidney:	n/a
39	chr3:134373303-134373353	HCPEpiC	choroid plexus:	n/a
40	chr3:134373303-134373353	CMK	blood:	n/a
41	chr3:134373303-134373353	PrEC	prostate:	n/a
42	chr3:134373303-134373353	NH-A	brain:	n/a
43	chr3:134373303-134373353	PANC-1	pancreas:	n/a
44	chr3:134373303-134373353	HUVEC	blood vessel:	n/a
45	chr3:134373303-134373353	GM19239	blood:	n/a
46	chr3:134373303-134373353	HCT-116	colon:	n/a
47	chr3:134373303-134373353	HMEC	breast:	n/a
48	chr3:134373303-134373353	AG04449	skin:	fetal
49	chr3:134373303-134373353	AG09319	gingival:	n/a
50	chr3:134373303-134373353	HepG2	liver:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134370814..134375265-chr3:134381984..134385819,4	MCF-7	breast:
2	chr3:134371420..134374387-chr3:134415571..134417168,2	K562	blood:

No data

Variant related genes	Relation type
KY	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11720224	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13060869	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][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	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34136671	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34701532	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57936237	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6762606	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637801	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs60716777	ANAPC13	cis	Esophagus Mucosa	GTEx
rs60716777	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs60716777	ANAPC13	cis	lung	GTEx
rs60716777	ANAPC13	cis	Nerve Tibial	GTEx
rs60716777	ANAPC13	cis	Muscle Skeletal	GTEx
rs60716777	ANAPC13	cis	Artery Tibial	GTEx
rs60716777	ANAPC13	cis	Esophagus Muscularis	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134371000-134375200	Weak transcription	Gastric	stomach
2	chr3:134371000-134386800	Weak transcription	Pancreas	Pancrea
3	chr3:134371800-134374800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:134372000-134377200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr3:134372800-134373400	Enhancers	Fetal Heart	heart
6	chr3:134373200-134374800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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