Variant report

Variant	rs12304834
Chromosome Location	chr12:51570175-51570176
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	chr12:51570174-51570224	BJ	skin:	n/a
2	chr12:51570174-51570224	H1-hESC	embryonic stem cell:	embryo
3	chr12:51570174-51570224	HCPEpiC	choroid plexus:	n/a
4	chr12:51570174-51570224	A549	lung:	n/a
5	chr12:51570174-51570224	HRPEpiC	eye:	n/a
6	chr12:51570174-51570224	AG04449	skin:	fetal
7	chr12:51570174-51570224	HCT-116	colon:	n/a
8	chr12:51570174-51570224	GM12891	blood:	n/a
9	chr12:51570174-51570224	HUVEC	blood vessel:	n/a
10	chr12:51570174-51570224	Hepatocyte	liver:	n/a
11	chr12:51570174-51570224	Jurkat	blood:	n/a
12	chr12:51570174-51570224	ECC-1	luminal epithelium:	n/a
13	chr12:51570174-51570224	NB4	blood:	n/a
14	chr12:51570174-51570224	HCM	heart:	n/a
15	chr12:51570174-51570224	MCF10A-Er-Src	breast:	n/a
16	chr12:51570174-51570224	NHBE	bronchial:	n/a
17	chr12:51570174-51570224	PANC-1	pancreas:	n/a
18	chr12:51570174-51570224	ovcar-3	ovarian:	n/a
19	chr12:51570174-51570224	LNCaP	prostate:	n/a
20	chr12:51570174-51570224	BE2_C	brain:	n/a
21	chr12:51570174-51570224	MCF-7	breast:	n/a
22	chr12:51570174-51570224	ProgFib	skin:	n/a
23	chr12:51570174-51570224	SK-N-SH	brain:	n/a
24	chr12:51570174-51570224	GM06990	blood:	n/a
25	chr12:51570174-51570224	GM12878	blood:	n/a
26	chr12:51570174-51570224	Hela-S3	cervix:	n/a
27	chr12:51570174-51570224	HMEC	breast:	n/a
28	chr12:51570174-51570224	HEEpiC	esophagus:	n/a
29	chr12:51570174-51570224	RPTEC	kidney:	n/a
30	chr12:51570174-51570224	NH-A	brain:	n/a
31	chr12:51570174-51570224	NHDF-neo	bronchial:	n/a
32	chr12:51570174-51570224	U87	brain:	n/a
33	chr12:51570174-51570224	IMR90	lung:	fetal
34	chr12:51570174-51570224	SK-N-SH_RA	brain:	n/a
35	chr12:51570174-51570224	HEK293	kidney:	embryo
36	chr12:51570174-51570224	HepG2	liver:	n/a
37	chr12:51570174-51570224	AG10803	skin:	n/a
38	chr12:51570174-51570224	HAEpiC	amniotic membrane:	n/a
39	chr12:51570174-51570224	HRCEpiC	kidney:	n/a
40	chr12:51570174-51570224	HCF	heart:	n/a
41	chr12:51570174-51570224	AG09309	skin:	n/a
42	chr12:51570174-51570224	PFSK-1	brain:	n/a
43	chr12:51570174-51570224	K562	blood:	n/a
44	chr12:51570174-51570224	HRE	kidney:	n/a
45	chr12:51570174-51570224	SK-N-MC	brain:	n/a
46	chr12:51570174-51570224	HIPEpiC	eye:	n/a
47	chr12:51570174-51570224	CMK	blood:	n/a
48	chr12:51570174-51570224	AoSMC	blood vessel:	n/a
49	chr12:51570174-51570224	SKMC	muscle:	n/a
50	chr12:51570174-51570224	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51564318..51567070-chr12:51569606..51571284,2	K562	blood:

No data

Variant related genes	Relation type
TFCP2	CpG island
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10876158	1.00[EUR][1000 genomes]
rs11169725	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11169753	1.00[EUR][1000 genomes]
rs12297981	1.00[EUR][1000 genomes]
rs12310188	1.00[EUR][1000 genomes]
rs12310717	1.00[EUR][1000 genomes]
rs12321105	1.00[EUR][1000 genomes]
rs2359600	1.00[EUR][1000 genomes]
rs2359601	1.00[EUR][1000 genomes]
rs2359602	1.00[EUR][1000 genomes]
rs3951439	1.00[EUR][1000 genomes]
rs57341229	1.00[EUR][1000 genomes]
rs6580825	1.00[EUR][1000 genomes]
rs7134300	1.00[EUR][1000 genomes]
rs7134437	1.00[EUR][1000 genomes]
rs7134808	1.00[EUR][1000 genomes]
rs7138157	1.00[EUR][1000 genomes]
rs7297398	1.00[EUR][1000 genomes]
rs7301520	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7342309	1.00[EUR][1000 genomes]
rs7486892	1.00[EUR][1000 genomes]
rs7488776	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7971653	1.00[EUR][1000 genomes]
rs7979358	1.00[EUR][1000 genomes]
rs7980682	1.00[EUR][1000 genomes]
rs7980927	1.00[EUR][1000 genomes]
rs9804923	1.00[EUR][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51577200	Weak transcription	Fetal Kidney	kidney
2	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:51567400-51610600	Weak transcription	Right Atrium	heart

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