Variant report

Variant	esv3405294
Chromosome Location	chr12:64681135-64687933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:64687780-64688690	GM12878	blood:	n/a	n/a
2	CEBPB	chr12:64687546-64687682	HepG2	liver:	n/a	n/a
3	CEBPB	chr12:64687470-64687776	HepG2	liver:	n/a	n/a
4	CREB1	chr12:64687608-64688125	GM12878	blood:	n/a	n/a
5	EP300	chr12:64687231-64687347	K562	blood:	n/a	n/a
6	FOXA2	chr12:64686348-64687041	A549	lung:	n/a	n/a
7	FOXA2	chr12:64686485-64686813	A549	lung:	n/a	n/a
8	FOXM1	chr12:64687749-64689015	GM12878	blood:	n/a	n/a
9	HCFC1	chr12:64687311-64687335	K562	blood:	n/a	n/a
10	HEY1	chr12:64686809-64687057	K562	blood:	n/a	n/a
11	HEY1	chr12:64686923-64687285	K562	blood:	n/a	n/a
12	IKZF1	chr12:64687842-64688965	GM12878	blood:	n/a	n/a
13	MEF2A	chr12:64687773-64688659	GM12878	blood:	n/a	n/a
14	MTA3	chr12:64687822-64688925	GM12878	blood:	n/a	n/a
15	NFIC	chr12:64687802-64689102	GM12878	blood:	n/a	n/a
16	NFIC	chr12:64687737-64689092	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:64686977-64687013	K562	blood:	n/a	n/a
18	POLR2A	chr12:64687062-64687254	K562	blood:	n/a	n/a
19	POLR2A	chr12:64686752-64687087	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:64687069-64687215	K562	blood:	n/a	n/a
21	POLR2A	chr12:64687012-64687180	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr12:64686747-64686915	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr12:64687014-64687190	K562	blood:	n/a	n/a
24	POLR2A	chr12:64686659-64687303	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr12:64687262-64687288	K562	blood:	n/a	n/a
26	RCOR1	chr12:64687254-64687449	K562	blood:	n/a	n/a
27	RFX5	chr12:64687720-64688010	HepG2	liver:	n/a	n/a
28	RFX5	chr12:64687707-64688106	K562	blood:	n/a	n/a
29	RFX5	chr12:64687757-64688018	Hela-S3	cervix:	n/a	n/a
30	RFX5	chr12:64687524-64688222	SK-N-SH	brain:	n/a	n/a
31	RFX5	chr12:64687640-64688084	GM12878	blood:	n/a	n/a
32	RFX5	chr12:64687631-64688229	IMR90	lung:	n/a	n/a
33	RUNX3	chr12:64687825-64688905	GM12878	blood:	n/a	n/a
34	RUNX3	chr12:64687771-64689043	GM12878	blood:	n/a	n/a
35	STAT3	chr12:64687778-64687785	MCF10A-Er-Src	breast:	n/a	n/a
36	TAF1	chr12:64687064-64687227	K562	blood:	n/a	n/a
37	TAF1	chr12:64686719-64687168	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAL1	chr12:64687398-64687475	K562	blood:	n/a	n/a
39	TBP	chr12:64687011-64687277	K562	blood:	n/a	n/a
40	YY1	chr12:64687086-64687296	ECC-1	luminal epithelium:	n/a	chr12:64687135-64687147
41	YY1	chr12:64686979-64687274	K562	blood:	n/a	chr12:64687135-64687147
42	YY1	chr12:64687084-64687293	K562	blood:	n/a	chr12:64687135-64687147
43	YY1	chr12:64686976-64687334	H1-hESC	embryonic stem cell:	n/a	chr12:64687135-64687147
44	YY1	chr12:64687018-64687261	H1-hESC	embryonic stem cell:	n/a	chr12:64687135-64687147
45	YY1	chr12:64687083-64687360	ECC-1	luminal epithelium:	n/a	chr12:64687135-64687147

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:64686950-64687000	SK-N-SH	brain:	n/a
2	chr12:64686950-64687000	NHBE	bronchial:	n/a
3	chr12:64687265-64687315	CMK	blood:	n/a
4	chr12:64687265-64687315	GM19239	blood:	n/a
5	chr12:64686950-64687000	GM06990	blood:	n/a
6	chr12:64686950-64687000	NHDF-neo	bronchial:	n/a
7	chr12:64687265-64687315	ProgFib	skin:	n/a
8	chr12:64686950-64687000	HRCEpiC	kidney:	n/a
9	chr12:64687265-64687315	PrEC	prostate:	n/a
10	chr12:64687265-64687315	HepG2	liver:	n/a
11	chr12:64686950-64687000	SK-N-MC	brain:	n/a
12	chr12:64686950-64687000	RPTEC	kidney:	n/a
13	chr12:64687265-64687315	GM06990	blood:	n/a
14	chr12:64686950-64687000	BJ	skin:	n/a
15	chr12:64686950-64687000	AoSMC	blood vessel:	n/a
16	chr12:64686950-64687000	HEK293	kidney:	embryo
17	chr12:64687265-64687315	BJ	skin:	n/a
18	chr12:64686950-64687000	A549	lung:	n/a
19	chr12:64686950-64687000	GM12878	blood:	n/a
20	chr12:64686950-64687000	GM19239	blood:	n/a
21	chr12:64686950-64687000	LNCaP	prostate:	n/a
22	chr12:64687265-64687315	NT2-D1	testis:	n/a
23	chr12:64687265-64687315	HCT-116	colon:	n/a
24	chr12:64686950-64687000	ovcar-3	ovarian:	n/a
25	chr12:64687265-64687315	LNCaP	prostate:	n/a
26	chr12:64686950-64687000	NB4	blood:	n/a
27	chr12:64686950-64687000	ProgFib	skin:	n/a
28	chr12:64686950-64687000	IMR90	lung:	fetal
29	chr12:64686950-64687000	HUVEC	blood vessel:	n/a
30	chr12:64686950-64687000	Hepatocyte	liver:	n/a
31	chr12:64687265-64687315	GM12891	blood:	n/a
32	chr12:64687265-64687315	HRE	kidney:	n/a
33	chr12:64686950-64687000	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:64687265-64687315	AG04450	lung:	fetal
35	chr12:64687265-64687315	T-47D	breast:	n/a
36	chr12:64687265-64687315	SK-N-SH	brain:	n/a
37	chr12:64687265-64687315	HPAEpiC	pulmonary alveolar:	n/a
38	chr12:64686950-64687000	AG04449	skin:	fetal
39	chr12:64687265-64687315	BE2_C	brain:	n/a
40	chr12:64687265-64687315	NHBE	bronchial:	n/a
41	chr12:64686950-64687000	HCPEpiC	choroid plexus:	n/a
42	chr12:64686950-64687000	SK-N-SH_RA	brain:	n/a
43	chr12:64687265-64687315	NHDF-neo	bronchial:	n/a
44	chr12:64686950-64687000	MCF10A-Er-Src	breast:	n/a
45	chr12:64687265-64687315	HEEpiC	esophagus:	n/a
46	chr12:64686950-64687000	HEEpiC	esophagus:	n/a
47	chr12:64687265-64687315	SK-N-SH_RA	brain:	n/a
48	chr12:64686950-64687000	HCT-116	colon:	n/a
49	chr12:64686950-64687000	HCM	heart:	n/a
50	chr12:64687265-64687315	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:64687653..64690204-chr12:64799240..64801384,2	K562	blood:
2	chr12:64687262..64689026-chr12:64689031..64691176,2	MCF-7	breast:
3	chr12:64685688..64687353-chr12:64797874..64799502,2	K562	blood:

No data

Variant related genes	Relation type
C12orf56	TF binding region
C12orf56	CpG island
ENSG00000184575	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541732374	chr12:64681140-64681141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377714273	chr12:64681217-64681218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7489027	chr12:64681234-64681235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59952206	chr12:64681293-64681294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555284143	chr12:64681313-64681314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575180553	chr12:64681365-64681366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200394786	chr12:64681375-64681376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201335563	chr12:64681397-64681398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199551461	chr12:64681405-64681406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59911467	chr12:64681453-64681454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58880737	chr12:64681454-64681455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544106780	chr12:64681460-64681461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77484131	chr12:64681494-64681495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75318084	chr12:64681524-64681525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111456428	chr12:64681540-64681541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112933427	chr12:64681676-64681677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113672464	chr12:64681721-64681722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61933481	chr12:64681752-64681753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111383866	chr12:64681853-64681854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199668587	chr12:64681895-64681896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113837655	chr12:64681907-64681908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201471623	chr12:64682011-64682012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181463731	chr12:64682086-64682087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11175310	chr12:64682225-64682226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61933482	chr12:64682313-64682314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61933483	chr12:64682438-64682439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11175311	chr12:64682589-64682590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11175312	chr12:64682611-64682612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11175313	chr12:64682639-64682640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11175314	chr12:64682705-64682706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11175315	chr12:64682744-64682745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10878136	chr12:64682781-64682782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11175316	chr12:64682887-64682888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12370227	chr12:64683035-64683036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546228478	chr12:64683067-64683068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200951997	chr12:64683096-64683097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61933485	chr12:64683136-64683137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202236565	chr12:64683146-64683147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200158760	chr12:64683153-64683154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61933486	chr12:64683299-64683300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201289824	chr12:64683319-64683320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201809945	chr12:64683352-64683353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199624803	chr12:64683367-64683368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200754268	chr12:64683385-64683386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201628484	chr12:64683393-64683394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200161143	chr12:64683398-64683399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28786499	chr12:64683652-64683653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202075995	chr12:64683674-64683675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200140145	chr12:64683739-64683740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201476257	chr12:64683781-64683782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64667600-64694400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:64668000-64687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:64687000-64687200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:64687000-64687200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:64687000-64687200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:64687000-64687200	Active TSS	K562	blood
7	chr12:64687000-64687400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:64687000-64687400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:64687200-64687400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:64687200-64687400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:64687200-64687400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:64687200-64687400	Enhancers	GM12878-XiMat	blood
13	chr12:64687200-64687600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:64687200-64687600	Flanking Active TSS	K562	blood
15	chr12:64687200-64687800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:64687200-64687800	Enhancers	HepG2	liver
17	chr12:64687200-64688600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:64687200-64688600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr12:64687400-64687600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr12:64687400-64687600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:64687400-64687600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr12:64687400-64687600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:64687400-64687800	Flanking Active TSS	GM12878-XiMat	blood
24	chr12:64687600-64687800	Enhancers	K562	blood
25	chr12:64687800-64689400	Enhancers	GM12878-XiMat	blood
26	chr12:64687800-64705000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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