Variant report

Variant	rs73327129
Chromosome Location	chr12:64667388-64667389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:64667333-64668064	A549	lung:	n/a	n/a
2	RAD21	chr12:64667371-64667952	HCT-116	colon:	n/a	n/a
3	RAD21	chr12:64667342-64667972	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:64667371-64667482	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:64667242-64667967	HCT-116	colon:	n/a	n/a
6	CTCF	chr12:64667380-64667530	HCM	heart:	n/a	n/a
7	RAD21	chr12:64667342-64668205	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:64667320-64667954	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr12:64667296-64668049	MCF-7	breast:	n/a	n/a
10	EBF1	chr12:64667366-64667607	GM12878	blood:	n/a	n/a
11	CTCF	chr12:64667385-64668087	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64667353-64667403	HEK293	kidney:	embryo
2	chr12:64667353-64667403	GM12892	blood:	n/a
3	chr12:64667353-64667403	HNPCEpiC	eye:	n/a
4	chr12:64667353-64667403	AG04450	lung:	fetal
5	chr12:64667353-64667403	NH-A	brain:	n/a
6	chr12:64667353-64667403	HRPEpiC	eye:	n/a
7	chr12:64667353-64667403	MCF10A-Er-Src	breast:	n/a
8	chr12:64667353-64667403	NT2-D1	testis:	n/a
9	chr12:64667353-64667403	Hepatocyte	liver:	n/a
10	chr12:64667353-64667403	Caco-2	colon:	n/a
11	chr12:64667353-64667403	AoSMC	blood vessel:	n/a
12	chr12:64667353-64667403	GM06990	blood:	n/a
13	chr12:64667353-64667403	NB4	blood:	n/a
14	chr12:64667353-64667403	LNCaP	prostate:	n/a
15	chr12:64667353-64667403	SK-N-SH_RA	brain:	n/a
16	chr12:64667353-64667403	CMK	blood:	n/a
17	chr12:64667353-64667403	NHBE	bronchial:	n/a
18	chr12:64667353-64667403	AG09319	gingival:	n/a
19	chr12:64667353-64667403	HMEC	breast:	n/a
20	chr12:64667353-64667403	SAEC	small airway:	n/a
21	chr12:64667353-64667403	HepG2	liver:	n/a
22	chr12:64667353-64667403	SKMC	muscle:	n/a
23	chr12:64667353-64667403	K562	blood:	n/a
24	chr12:64667353-64667403	GM12878	blood:	n/a
25	chr12:64667353-64667403	SK-N-MC	brain:	n/a
26	chr12:64667353-64667403	MCF-7	breast:	n/a
27	chr12:64667353-64667403	GM19239	blood:	n/a
28	chr12:64667353-64667403	HCPEpiC	choroid plexus:	n/a
29	chr12:64667353-64667403	ProgFib	skin:	n/a
30	chr12:64667353-64667403	AG09309	skin:	n/a
31	chr12:64667353-64667403	PANC-1	pancreas:	n/a
32	chr12:64667353-64667403	SK-N-SH	brain:	n/a
33	chr12:64667353-64667403	PFSK-1	brain:	n/a
34	chr12:64667353-64667403	HEEpiC	esophagus:	n/a
35	chr12:64667353-64667403	HRCEpiC	kidney:	n/a
36	chr12:64667353-64667403	BJ	skin:	n/a
37	chr12:64667353-64667403	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:64667353-64667403	HIPEpiC	eye:	n/a
39	chr12:64667353-64667403	PrEC	prostate:	n/a
40	chr12:64667353-64667403	Hela-S3	cervix:	n/a
41	chr12:64667353-64667403	NHDF-neo	bronchial:	n/a
42	chr12:64667353-64667403	HUVEC	blood vessel:	n/a
43	chr12:64667353-64667403	AG04449	skin:	fetal
44	chr12:64667353-64667403	HCF	heart:	n/a
45	chr12:64667353-64667403	AG10803	skin:	n/a
46	chr12:64667353-64667403	HCM	heart:	n/a
47	chr12:64667353-64667403	T-47D	breast:	n/a
48	chr12:64667353-64667403	GM12891	blood:	n/a
49	chr12:64667353-64667403	HCT-116	colon:	n/a
50	chr12:64667353-64667403	HAEpiC	amniotic membrane:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64236984..64239290-chr12:64667145..64669112,2	MCF-7	breast:
2	chr12:64232868..64233765-chr12:64667261..64668056,2	MCF-7	breast:
3	chr12:64667209..64668158-chr12:64785710..64786773,8	MCF-7	breast:
4	chr12:64173521..64175190-chr12:64665547..64667605,2	K562	blood:
5	chr12:64666267..64669133-chr12:64797139..64800430,4	MCF-7	breast:
6	chr12:64667204..64668246-chr12:64785531..64786298,5	MCF-7	breast:
7	chr12:64667186..64668381-chr12:64766771..64767890,3	MCF-7	breast:

No data

Variant related genes	Relation type
C12orf56	TF binding region
C12orf56	CpG island
ENSG00000184575	Chromatin interaction
ENSG00000118600	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10735923	1.00[EUR][1000 genomes]
rs10784399	1.00[EUR][1000 genomes]
rs11831579	1.00[EUR][1000 genomes]
rs11836616	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1347577	1.00[EUR][1000 genomes]
rs1613429	1.00[EUR][1000 genomes]
rs1708205	1.00[EUR][1000 genomes]
rs17100200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17100272	0.87[AFR][1000 genomes]
rs1836865	1.00[EUR][1000 genomes]
rs1865799	1.00[EUR][1000 genomes]
rs2335358	1.00[EUR][1000 genomes]
rs2878282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4237926	1.00[EUR][1000 genomes]
rs4503636	1.00[EUR][1000 genomes]
rs4606564	1.00[EUR][1000 genomes]
rs4763013	1.00[EUR][1000 genomes]
rs55973281	1.00[EUR][1000 genomes]
rs56011088	1.00[EUR][1000 genomes]
rs56784792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58160282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59450427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60145227	1.00[AMR][1000 genomes]
rs60242151	1.00[EUR][1000 genomes]
rs73311817	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73311823	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73311828	1.00[EUR][1000 genomes]
rs73325081	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73325098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327140	1.00[AMR][1000 genomes]
rs73327148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973979	1.00[EUR][1000 genomes]
rs7974953	1.00[EUR][1000 genomes]
rs9888445	1.00[EUR][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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64651000-64667800	Weak transcription	Placenta	Placenta
2	chr12:64663400-64667800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:64666000-64667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:64667200-64667600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:64667200-64668000	Enhancers	Brain Cingulate Gyrus	brain

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