Variant report

Variant	rs117763816
Chromosome Location	chr12:48875379-48875380
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:1)
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	chr12:48875378-48875428	T-47D	breast:	n/a
2	chr12:48875378-48875428	GM12878	blood:	n/a
3	chr12:48875378-48875428	PrEC	prostate:	n/a
4	chr12:48875378-48875428	HMEC	breast:	n/a
5	chr12:48875378-48875428	ProgFib	skin:	n/a
6	chr12:48875378-48875428	HEK293	kidney:	embryo
7	chr12:48875378-48875428	HRE	kidney:	n/a
8	chr12:48875378-48875428	AG10803	skin:	n/a
9	chr12:48875378-48875428	HCPEpiC	choroid plexus:	n/a
10	chr12:48875378-48875428	NH-A	brain:	n/a
11	chr12:48875378-48875428	HCM	heart:	n/a
12	chr12:48875378-48875428	GM12891	blood:	n/a
13	chr12:48875378-48875428	GM12892	blood:	n/a
14	chr12:48875378-48875428	BJ	skin:	n/a
15	chr12:48875378-48875428	GM19239	blood:	n/a
16	chr12:48875378-48875428	SK-N-SH_RA	brain:	n/a
17	chr12:48875378-48875428	SAEC	small airway:	n/a
18	chr12:48875378-48875428	GM06990	blood:	n/a
19	chr12:48875378-48875428	HL-60	blood:	n/a
20	chr12:48875378-48875428	PANC-1	pancreas:	n/a
21	chr12:48875378-48875428	HCT-116	colon:	n/a
22	chr12:48875378-48875428	Hela-S3	cervix:	n/a
23	chr12:48875378-48875428	K562	blood:	n/a
24	chr12:48875378-48875428	AG04449	skin:	fetal
25	chr12:48875378-48875428	HRPEpiC	eye:	n/a
26	chr12:48875378-48875428	BE2_C	brain:	n/a
27	chr12:48875378-48875428	ECC-1	luminal epithelium:	n/a
28	chr12:48875378-48875428	PFSK-1	brain:	n/a
29	chr12:48875378-48875428	HIPEpiC	eye:	n/a
30	chr12:48875378-48875428	SK-N-SH	brain:	n/a
31	chr12:48875378-48875428	HRCEpiC	kidney:	n/a
32	chr12:48875378-48875428	H1-hESC	embryonic stem cell:	embryo
33	chr12:48875378-48875428	NT2-D1	testis:	n/a
34	chr12:48875378-48875428	NHDF-neo	bronchial:	n/a
35	chr12:48875378-48875428	CMK	blood:	n/a
36	chr12:48875378-48875428	RPTEC	kidney:	n/a
37	chr12:48875378-48875428	U87	brain:	n/a
38	chr12:48875378-48875428	AoSMC	blood vessel:	n/a
39	chr12:48875378-48875428	ovcar-3	ovarian:	n/a
40	chr12:48875378-48875428	A549	lung:	n/a
41	chr12:48875378-48875428	Hepatocyte	liver:	n/a
42	chr12:48875378-48875428	SK-N-MC	brain:	n/a
43	chr12:48875378-48875428	HCF	heart:	n/a
44	chr12:48875378-48875428	MCF10A-Er-Src	breast:	n/a
45	chr12:48875378-48875428	HEEpiC	esophagus:	n/a
46	chr12:48875378-48875428	Jurkat	blood:	n/a
47	chr12:48875378-48875428	Caco-2	colon:	n/a
48	chr12:48875378-48875428	AG04450	lung:	fetal
49	chr12:48875378-48875428	LNCaP	prostate:	n/a
50	chr12:48875378-48875428	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48875260..48877080-chr12:48883909..48886028,2	K562	blood:

No data

Variant related genes	Relation type
C12orf54	CpG island
ENSG00000177627	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv975415	chr12:48873981-48881500	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
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