Variant report

Variant	rs12487566
Chromosome Location	chr3:134512481-134512482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:134512450-134512566	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:134512480-134512530	HAEpiC	amniotic membrane:	n/a
2	chr3:134512480-134512530	HEEpiC	esophagus:	n/a
3	chr3:134512480-134512530	HUVEC	blood vessel:	n/a
4	chr3:134512480-134512530	HNPCEpiC	eye:	n/a
5	chr3:134512480-134512530	PANC-1	pancreas:	n/a
6	chr3:134512480-134512530	NT2-D1	testis:	n/a
7	chr3:134512480-134512530	GM12892	blood:	n/a
8	chr3:134512480-134512530	HRE	kidney:	n/a
9	chr3:134512480-134512530	MCF-7	breast:	n/a
10	chr3:134512480-134512530	IMR90	lung:	fetal
11	chr3:134512480-134512530	ECC-1	luminal epithelium:	n/a
12	chr3:134512480-134512530	SK-N-SH_RA	brain:	n/a
13	chr3:134512480-134512530	Hela-S3	cervix:	n/a
14	chr3:134512480-134512530	Jurkat	blood:	n/a
15	chr3:134512480-134512530	HRCEpiC	kidney:	n/a
16	chr3:134512480-134512530	T-47D	breast:	n/a
17	chr3:134512480-134512530	ovcar-3	ovarian:	n/a
18	chr3:134512480-134512530	AoSMC	blood vessel:	n/a
19	chr3:134512480-134512530	AG10803	skin:	n/a
20	chr3:134512480-134512530	LNCaP	prostate:	n/a
21	chr3:134512480-134512530	GM19239	blood:	n/a
22	chr3:134512480-134512530	HEK293	kidney:	embryo
23	chr3:134512480-134512530	BE2_C	brain:	n/a
24	chr3:134512480-134512530	H1-hESC	embryonic stem cell:	embryo
25	chr3:134512480-134512530	PFSK-1	brain:	n/a
26	chr3:134512480-134512530	AG09309	skin:	n/a
27	chr3:134512480-134512530	AG04449	skin:	fetal
28	chr3:134512480-134512530	NB4	blood:	n/a
29	chr3:134512480-134512530	HCT-116	colon:	n/a
30	chr3:134512480-134512530	K562	blood:	n/a
31	chr3:134512480-134512530	Caco-2	colon:	n/a
32	chr3:134512480-134512530	HPAEpiC	pulmonary alveolar:	n/a
33	chr3:134512480-134512530	PrEC	prostate:	n/a
34	chr3:134512480-134512530	HMEC	breast:	n/a
35	chr3:134512480-134512530	HepG2	liver:	n/a
36	chr3:134512480-134512530	RPTEC	kidney:	n/a
37	chr3:134512480-134512530	ProgFib	skin:	n/a
38	chr3:134512480-134512530	NHBE	bronchial:	n/a
39	chr3:134512480-134512530	SK-N-MC	brain:	n/a
40	chr3:134512480-134512530	U87	brain:	n/a
41	chr3:134512480-134512530	BJ	skin:	n/a
42	chr3:134512480-134512530	HIPEpiC	eye:	n/a
43	chr3:134512480-134512530	SKMC	muscle:	n/a
44	chr3:134512480-134512530	MCF10A-Er-Src	breast:	n/a
45	chr3:134512480-134512530	HCPEpiC	choroid plexus:	n/a
46	chr3:134512480-134512530	HCM	heart:	n/a
47	chr3:134512480-134512530	AG04450	lung:	fetal
48	chr3:134512480-134512530	GM12891	blood:	n/a
49	chr3:134512480-134512530	SAEC	small airway:	n/a
50	chr3:134512480-134512530	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
EPHB1	TF binding region
EPHB1	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12487946	0.81[ASN][1000 genomes]
rs12488253	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12494934	0.81[ASN][1000 genomes]
rs3772678	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58134809	0.81[ASN][1000 genomes]
rs72982119	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72982123	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877515	chr3:134460368-134591138	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134510400-134513600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:134511800-134513800	Weak transcription	Pancreas	Pancrea
3	chr3:134512400-134513600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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