Variant report

Variant	rs12308319
Chromosome Location	chr12:75057931-75057932
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:75057869-75057935	HepG2	liver:	n/a	n/a
2	TAF1	chr12:75057837-75057955	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:75057893-75057943	ProgFib	skin:	n/a
2	chr12:75057893-75057943	HCF	heart:	n/a
3	chr12:75057893-75057943	AG10803	skin:	n/a
4	chr12:75057893-75057943	CMK	blood:	n/a
5	chr12:75057913-75057963	HRE	kidney:	n/a
6	chr12:75057913-75057963	HRCEpiC	kidney:	n/a
7	chr12:75057913-75057963	NHDF-neo	bronchial:	n/a
8	chr12:75057893-75057943	HEEpiC	esophagus:	n/a
9	chr12:75057913-75057963	U87	brain:	n/a
10	chr12:75057893-75057943	HAEpiC	amniotic membrane:	n/a
11	chr12:75057913-75057963	GM12892	blood:	n/a
12	chr12:75057913-75057963	HUVEC	blood vessel:	n/a
13	chr12:75057913-75057963	PANC-1	pancreas:	n/a
14	chr12:75057913-75057963	ovcar-3	ovarian:	n/a
15	chr12:75057913-75057963	IMR90	lung:	fetal
16	chr12:75057913-75057963	GM06990	blood:	n/a
17	chr12:75057893-75057943	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:75057913-75057963	AG04449	skin:	fetal
19	chr12:75057893-75057943	NT2-D1	testis:	n/a
20	chr12:75057913-75057963	HL-60	blood:	n/a
21	chr12:75057913-75057963	Hepatocyte	liver:	n/a
22	chr12:75057913-75057963	K562	blood:	n/a
23	chr12:75057893-75057943	AG09319	gingival:	n/a
24	chr12:75057893-75057943	HMEC	breast:	n/a
25	chr12:75057913-75057963	MCF-7	breast:	n/a
26	chr12:75057893-75057943	Caco-2	colon:	n/a
27	chr12:75057893-75057943	U87	brain:	n/a
28	chr12:75057913-75057963	HIPEpiC	eye:	n/a
29	chr12:75057893-75057943	HUVEC	blood vessel:	n/a
30	chr12:75057893-75057943	SK-N-SH_RA	brain:	n/a
31	chr12:75057893-75057943	NH-A	brain:	n/a
32	chr12:75057893-75057943	SKMC	muscle:	n/a
33	chr12:75057893-75057943	SK-N-SH	brain:	n/a
34	chr12:75057893-75057943	HRPEpiC	eye:	n/a
35	chr12:75057893-75057943	HRE	kidney:	n/a
36	chr12:75057913-75057963	HepG2	liver:	n/a
37	chr12:75057893-75057943	PrEC	prostate:	n/a
38	chr12:75057913-75057963	HCM	heart:	n/a
39	chr12:75057893-75057943	T-47D	breast:	n/a
40	chr12:75057893-75057943	HNPCEpiC	eye:	n/a
41	chr12:75057913-75057963	ECC-1	luminal epithelium:	n/a
42	chr12:75057913-75057963	NB4	blood:	n/a
43	chr12:75057893-75057943	AoSMC	blood vessel:	n/a
44	chr12:75057893-75057943	HepG2	liver:	n/a
45	chr12:75057893-75057943	GM12878	blood:	n/a
46	chr12:75057913-75057963	SKMC	muscle:	n/a
47	chr12:75057913-75057963	GM19239	blood:	n/a
48	chr12:75057913-75057963	SAEC	small airway:	n/a
49	chr12:75057913-75057963	LNCaP	prostate:	n/a
50	chr12:75057893-75057943	IMR90	lung:	fetal

No data

Variant related genes	Relation type
ENSG00000188646	TF binding region
ENSG00000188646	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10506698	1.00[JPT][hapmap]
rs17114035	1.00[JPT][hapmap]
rs7295394	1.00[JPT][hapmap]
rs73357962	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965242	1.00[JPT][hapmap]
rs7966232	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899297	chr12:75045728-75169675	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv899298	chr12:75045728-75173289	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv427915	chr12:75047293-75172692	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:75057600-75058200	Enhancers	Stomach Mucosa	stomach

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