Variant report

Variant	rs498080
Chromosome Location	chr12:31769501-31769502
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:31769477-31769770	A549	lung:	n/a	chr12:31769603-31769614
2	HEY1	chr12:31769074-31769553	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:31769449-31769763	HepG2	liver:	n/a	chr12:31769603-31769614
4	POLR2A	chr12:31769190-31769501	GM12878	blood:	n/a	n/a
5	HEY1	chr12:31769221-31769530	K562	blood:	n/a	n/a
6	CEBPB	chr12:31769441-31769773	IMR90	lung:	n/a	chr12:31769603-31769614
7	POLR2A	chr12:31769187-31769508	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:31769049-31769576	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31769499-31769549	Caco-2	colon:	n/a
2	chr12:31769499-31769549	PrEC	prostate:	n/a
3	chr12:31769499-31769549	SKMC	muscle:	n/a
4	chr12:31769499-31769549	HCPEpiC	choroid plexus:	n/a
5	chr12:31769499-31769549	HMEC	breast:	n/a
6	chr12:31769499-31769549	HRPEpiC	eye:	n/a
7	chr12:31769499-31769549	AG04450	lung:	fetal
8	chr12:31769499-31769549	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:31769499-31769549	A549	lung:	n/a
10	chr12:31769499-31769549	SK-N-MC	brain:	n/a
11	chr12:31769499-31769549	PFSK-1	brain:	n/a
12	chr12:31769499-31769549	SAEC	small airway:	n/a
13	chr12:31769499-31769549	HEEpiC	esophagus:	n/a
14	chr12:31769499-31769549	GM06990	blood:	n/a
15	chr12:31769499-31769549	GM12892	blood:	n/a
16	chr12:31769499-31769549	AG04449	skin:	fetal
17	chr12:31769499-31769549	Jurkat	blood:	n/a
18	chr12:31769499-31769549	SK-N-SH_RA	brain:	n/a
19	chr12:31769499-31769549	HRCEpiC	kidney:	n/a
20	chr12:31769499-31769549	HRE	kidney:	n/a
21	chr12:31769499-31769549	ProgFib	skin:	n/a
22	chr12:31769499-31769549	ovcar-3	ovarian:	n/a
23	chr12:31769499-31769549	BE2_C	brain:	n/a
24	chr12:31769499-31769549	HAEpiC	amniotic membrane:	n/a
25	chr12:31769499-31769549	MCF10A-Er-Src	breast:	n/a
26	chr12:31769499-31769549	IMR90	lung:	fetal
27	chr12:31769499-31769549	HCM	heart:	n/a
28	chr12:31769499-31769549	HEK293	kidney:	embryo
29	chr12:31769499-31769549	ECC-1	luminal epithelium:	n/a
30	chr12:31769499-31769549	GM12891	blood:	n/a
31	chr12:31769499-31769549	HCT-116	colon:	n/a
32	chr12:31769499-31769549	AG09319	gingival:	n/a
33	chr12:31769499-31769549	NHBE	bronchial:	n/a
34	chr12:31769499-31769549	AG10803	skin:	n/a
35	chr12:31769499-31769549	HUVEC	blood vessel:	n/a
36	chr12:31769499-31769549	LNCaP	prostate:	n/a
37	chr12:31769499-31769549	K562	blood:	n/a
38	chr12:31769499-31769549	SK-N-SH	brain:	n/a
39	chr12:31769499-31769549	NHDF-neo	bronchial:	n/a
40	chr12:31769499-31769549	BJ	skin:	n/a
41	chr12:31769499-31769549	Hepatocyte	liver:	n/a
42	chr12:31769499-31769549	NH-A	brain:	n/a
43	chr12:31769499-31769549	MCF-7	breast:	n/a
44	chr12:31769499-31769549	NT2-D1	testis:	n/a
45	chr12:31769499-31769549	RPTEC	kidney:	n/a
46	chr12:31769499-31769549	Hela-S3	cervix:	n/a
47	chr12:31769499-31769549	HepG2	liver:	n/a
48	chr12:31769499-31769549	T-47D	breast:	n/a
49	chr12:31769499-31769549	HIPEpiC	eye:	n/a
50	chr12:31769499-31769549	U87	brain:	n/a

No data

Variant related genes	Relation type
AK4P3	TF binding region
AK4P3	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1259426	0.81[EUR][1000 genomes]
rs12826630	0.87[ASN][1000 genomes]
rs12827275	0.87[ASN][1000 genomes]
rs1542536	0.81[EUR][1000 genomes]
rs1677187	0.81[AMR][1000 genomes]
rs1677217	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1716210	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34229621	0.90[ASN][1000 genomes]
rs73088360	0.90[ASN][1000 genomes]
rs7975536	0.90[ASN][1000 genomes]
rs7979755	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv983305	chr12:31767612-31773026	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31762800-31771600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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