Variant report

Variant	esv274961
Chromosome Location	chr12:74039496-74050510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:74050296-74050452	Gliobla	brain:	n/a	n/a
2	CTCF	chr12:74050227-74050497	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:74050317-74050438	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr12:74050296-74050469	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:74050293-74050485	MCF-7	breast:	n/a	n/a
6	CTCF	chr12:74050260-74050410	HBMEC	blood vessel:	n/a	n/a
7	CTCF	chr12:74050329-74050430	MCF-7	breast:	n/a	n/a
8	CTCF	chr12:74050139-74050519	MCF-7	breast:	n/a	n/a
9	CTCF	chr12:74050240-74050390	HEK293	kidney:	n/a	n/a
10	CTCF	chr12:74050341-74050432	MCF-7	breast:	n/a	n/a
11	CTCF	chr12:74050372-74050402	Fibrobl	skin:	n/a	n/a
12	CTCF	chr12:74050340-74050490	HCT-116	colon:	n/a	n/a
13	CTCF	chr12:74050280-74050430	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:74050275-74050479	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:74050300-74050450	MCF-7	breast:	n/a	n/a
16	CTCF	chr12:74050240-74050390	HCT-116	colon:	n/a	n/a
17	CTCF	chr12:74050260-74050410	SK-N-SH_RA	brain:	n/a	n/a
18	KAP1	chr12:74039339-74039816	HEK293	kidney:	n/a	n/a
19	MXI1	chr12:74041312-74041316	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:74047728-74047795	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:74039698-74039749	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:74040973-74040998	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr12:74050331-74050531	MCF10A-Er-Src	breast:	n/a	n/a
24	RAD21	chr12:74050171-74050497	HCT-116	colon:	n/a	n/a
25	RAD21	chr12:74050164-74050586	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr12:74050102-74050454	HCT-116	colon:	n/a	n/a
27	RAD21	chr12:74050146-74050536	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr12:74050237-74050575	MCF-7	breast:	n/a	n/a
29	RAD21	chr12:74050150-74050567	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr12:74050043-74050645	MCF-7	breast:	n/a	n/a
31	RAD21	chr12:74050241-74050440	GM12878	blood:	n/a	n/a
32	SETDB1	chr12:74046878-74047397	U2OS	brain:	n/a	n/a
33	SETDB1	chr12:74039316-74039996	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:73908195..73908905-chr12:74049929..74050461,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243164	TF binding region

Extended variants
information (count: 220 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532247338	chr12:74039515-74039516	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563272631	chr12:74039532-74039533	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552083610	chr12:74039565-74039566	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532236138	chr12:74039567-74039568	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531637006	chr12:74039590-74039591	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2083855	chr12:74039618-74039619	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183135235	chr12:74039626-74039627	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs75721560	chr12:74039629-74039630	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577726448	chr12:74039631-74039632	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs554040190	chr12:74039634-74039635	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs552447128	chr12:74039641-74039642	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76457073	chr12:74039648-74039649	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs556928474	chr12:74039664-74039665	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575299800	chr12:74039741-74039742	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs559412136	chr12:74039793-74039794	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs150926376	chr12:74039831-74039832	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs371143499	chr12:74039895-74039896	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs574408676	chr12:74039903-74039904	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540338292	chr12:74039953-74039954	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560069144	chr12:74039973-74039974	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs532210456	chr12:74040003-74040004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373609705	chr12:74040005-74040006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375631519	chr12:74040029-74040030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562490709	chr12:74040079-74040080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531507964	chr12:74040094-74040095	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35180230	chr12:74040119-74040120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548252149	chr12:74040120-74040121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565603786	chr12:74040121-74040122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397696634	chr12:74040126-74040127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs398020127	chr12:74040127-74040128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568459688	chr12:74040132-74040133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527754023	chr12:74040170-74040171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547896607	chr12:74040178-74040179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140789935	chr12:74040184-74040185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540076089	chr12:74040190-74040191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556891926	chr12:74040193-74040194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570316639	chr12:74040203-74040204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111749956	chr12:74040221-74040222	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536154827	chr12:74040242-74040243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554232521	chr12:74040248-74040249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553715091	chr12:74040254-74040255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149684170	chr12:74040279-74040280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539937510	chr12:74040303-74040304	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145358741	chr12:74040325-74040326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576624825	chr12:74040379-74040380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141373089	chr12:74040405-74040406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573894447	chr12:74040473-74040474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145102860	chr12:74040479-74040480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115540663	chr12:74040554-74040555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116337310	chr12:74040572-74040573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74038400-74041200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:74038600-74040600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:74039000-74039800	ZNF genes & repeats	Brain Hippocampus Middle	brain
4	chr12:74039200-74040400	ZNF genes & repeats	Liver	Liver
5	chr12:74039800-74041800	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:74045800-74046400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:74046400-74047800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:74046600-74047400	ZNF genes & repeats	Brain Hippocampus Middle	brain
9	chr12:74046600-74048200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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