Variant report

Variant	esv1846651
Chromosome Location	chr12:59909653-59946206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr12:59928674-59929037	GM12878	blood:	n/a	n/a
2	BCL3	chr12:59928231-59928552	GM12878	blood:	n/a	n/a
3	BCL3	chr12:59928657-59928995	GM12878	blood:	n/a	n/a
4	BRCA1	chr12:59940309-59940328	GM12878	blood:	n/a	n/a
5	CEBPB	chr12:59928811-59928850	A549	lung:	n/a	n/a
6	CTCF	chr12:59923861-59923887	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:59912300-59912450	GM12864	blood:	n/a	n/a
8	CTCF	chr12:59912346-59912416	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr12:59912340-59912490	MCF-7	breast:	n/a	n/a
10	E2F4	chr12:59920453-59920597	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:59912932-59913159	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr12:59913014-59913214	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr12:59913043-59913202	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr12:59913042-59913232	MCF10A-Er-Src	breast:	n/a	n/a
15	FOXA1	chr12:59942803-59943136	HepG2	liver:	n/a	n/a
16	FOXA1	chr12:59942809-59943016	T-47D	breast:	n/a	n/a
17	IRF1	chr12:59922062-59922098	K562	blood:	n/a	n/a
18	MAZ	chr12:59919589-59919635	HepG2	liver:	n/a	n/a
19	MYC	chr12:59923345-59923478	MCF10A-Er-Src	breast:	n/a	n/a
20	NFATC1	chr12:59943727-59944028	GM12878	blood:	n/a	n/a
21	PBX3	chr12:59930497-59930722	GM12878	blood:	n/a	n/a
22	PBX3	chr12:59943765-59943962	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:59920291-59920329	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr12:59944465-59944495	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr12:59909862-59909866	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:59914216-59914321	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr12:59915224-59915290	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT1	chr12:59913427-59914002	Hela-S3	cervix:	n/a	chr12:59913782-59913796 chr12:59913784-59913793 chr12:59913785-59913794 chr12:59913779-59913799
29	STAT3	chr12:59944605-59944684	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr12:59914354-59914521	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr12:59918924-59919124	MCF10A-Er-Src	breast:	n/a	n/a
32	TCF3	chr12:59943733-59944009	GM12878	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:59925323-59925373	HRE	kidney:	n/a
2	chr12:59925323-59925373	LNCaP	prostate:	n/a
3	chr12:59925037-59925087	AG09309	skin:	n/a
4	chr12:59925323-59925373	HUVEC	blood vessel:	n/a
5	chr12:59925037-59925087	GM12878	blood:	n/a
6	chr12:59924853-59924903	HRCEpiC	kidney:	n/a
7	chr12:59925037-59925087	T-47D	breast:	n/a
8	chr12:59924853-59924903	SKMC	muscle:	n/a
9	chr12:59924853-59924903	NB4	blood:	n/a
10	chr12:59925323-59925373	PrEC	prostate:	n/a
11	chr12:59924853-59924903	HEEpiC	esophagus:	n/a
12	chr12:59925323-59925373	HCT-116	colon:	n/a
13	chr12:59925037-59925087	ovcar-3	ovarian:	n/a
14	chr12:59924853-59924903	Hepatocyte	liver:	n/a
15	chr12:59924853-59924903	GM12892	blood:	n/a
16	chr12:59925323-59925373	HRCEpiC	kidney:	n/a
17	chr12:59925037-59925087	AG04450	lung:	fetal
18	chr12:59924853-59924903	AG04450	lung:	fetal
19	chr12:59925323-59925373	PFSK-1	brain:	n/a
20	chr12:59925323-59925373	GM12878	blood:	n/a
21	chr12:59924853-59924903	AG10803	skin:	n/a
22	chr12:59924853-59924903	HepG2	liver:	n/a
23	chr12:59925037-59925087	H1-hESC	embryonic stem cell:	embryo
24	chr12:59925037-59925087	GM12891	blood:	n/a
25	chr12:59924853-59924903	HAEpiC	amniotic membrane:	n/a
26	chr12:59925323-59925373	ECC-1	luminal epithelium:	n/a
27	chr12:59925037-59925087	PANC-1	pancreas:	n/a
28	chr12:59925323-59925373	AG04450	lung:	fetal
29	chr12:59925323-59925373	HCPEpiC	choroid plexus:	n/a
30	chr12:59924853-59924903	Hela-S3	cervix:	n/a
31	chr12:59924853-59924903	AG09309	skin:	n/a
32	chr12:59925037-59925087	HRPEpiC	eye:	n/a
33	chr12:59925037-59925087	Hela-S3	cervix:	n/a
34	chr12:59925037-59925087	PrEC	prostate:	n/a
35	chr12:59925037-59925087	NH-A	brain:	n/a
36	chr12:59925037-59925087	SAEC	small airway:	n/a
37	chr12:59925323-59925373	AG09319	gingival:	n/a
38	chr12:59925037-59925087	ProgFib	skin:	n/a
39	chr12:59925323-59925373	AG10803	skin:	n/a
40	chr12:59924853-59924903	IMR90	lung:	fetal
41	chr12:59925323-59925373	H1-hESC	embryonic stem cell:	embryo
42	chr12:59925323-59925373	HNPCEpiC	eye:	n/a
43	chr12:59925323-59925373	RPTEC	kidney:	n/a
44	chr12:59925323-59925373	GM12892	blood:	n/a
45	chr12:59925037-59925087	A549	lung:	n/a
46	chr12:59924853-59924903	HCM	heart:	n/a
47	chr12:59924853-59924903	NHBE	bronchial:	n/a
48	chr12:59924853-59924903	ProgFib	skin:	n/a
49	chr12:59924853-59924903	CMK	blood:	n/a
50	chr12:59925323-59925373	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:59914091..59917711-chr12:59989940..59992108,3	MCF-7	breast:
2	chr12:59941726..59943985-chr12:59989663..59991635,2	MCF-7	breast:
3	chr12:59919709..59922642-chr12:59929595..59932355,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266724	TF binding region
ENSG00000257230	TF binding region
ENSG00000265430	TF binding region
ENSG00000266724	CpG island
ENSG00000257230	CpG island
ENSG00000265430	CpG island
ENSG00000266724	chromatin interactions
ENSG00000118596	chromatin interactions
ENSG00000265430	chromatin interactions

Extended variants
information (count: 544 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:544 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192441262	chr12:59912421-59912422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546266126	chr12:59912431-59912432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150327582	chr12:59912643-59912644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558008411	chr12:59912658-59912659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371688093	chr12:59912678-59912679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573273369	chr12:59912682-59912683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578179034	chr12:59912703-59912704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144932679	chr12:59912730-59912731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573627014	chr12:59912768-59912769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115296539	chr12:59912783-59912784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184853900	chr12:59912790-59912791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575850944	chr12:59912793-59912794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546059784	chr12:59912803-59912804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35936753	chr12:59912826-59912827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564354534	chr12:59912874-59912875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528640829	chr12:59912877-59912878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540376183	chr12:59912887-59912888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562032516	chr12:59912897-59912898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368731843	chr12:59912924-59912925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529349782	chr12:59912942-59912943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369628317	chr12:59912979-59912980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188149192	chr12:59912985-59912986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533095069	chr12:59913004-59913005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10877301	chr12:59913026-59913027	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574260530	chr12:59913049-59913050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180690091	chr12:59913088-59913089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149033639	chr12:59913092-59913093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143005517	chr12:59913109-59913110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139389391	chr12:59913122-59913123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556685390	chr12:59913146-59913147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114899104	chr12:59913154-59913155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386763461	chr12:59913173-59913174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189450963	chr12:59913187-59913188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546122848	chr12:59913206-59913207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375423928	chr12:59913214-59913215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370470678	chr12:59913231-59913232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181495617	chr12:59913251-59913252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370124353	chr12:59913356-59913357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561590372	chr12:59913359-59913360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201214816	chr12:59913374-59913375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3069854	chr12:59913376-59913377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573141753	chr12:59913417-59913418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186678941	chr12:59913442-59913443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562263112	chr12:59913459-59913460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112833348	chr12:59913483-59913484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529392027	chr12:59913534-59913535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530634872	chr12:59913587-59913588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543861935	chr12:59913728-59913729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544660612	chr12:59913754-59913755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562780084	chr12:59913781-59913782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Thoracic aortic aneurysm	21092924	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	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	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
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59912400-59921000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59913400-59914000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:59913600-59914000	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:59913600-59914000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:59913600-59914000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:59942000-59943600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:59942200-59943800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:59942400-59943200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:59942400-59943200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:59942600-59943000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:59942600-59943200	Enhancers	Stomach Mucosa	stomach
12	chr12:59942600-59943400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:59942600-59943600	Enhancers	Esophagus	oesophagus
14	chr12:59942600-59944000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:59943000-59943200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:59943200-59943400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr12:59943200-59943600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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