Variant report

Variant	esv3437071
Chromosome Location	chr2:33923648-33927946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr2:33924263-33924289	GM12878	blood:	n/a	n/a
2	CTCF	chr2:33925961-33926048	Fibrobl	skin:	n/a	n/a
3	MYC	chr2:33925832-33925835	MCF-7	breast:	n/a	n/a
4	MYC	chr2:33925776-33925789	MCF-7	breast:	n/a	n/a
5	MYC	chr2:33925755-33925762	MCF-7	breast:	n/a	n/a
6	MYC	chr2:33926008-33926020	MCF-7	breast:	n/a	n/a
7	MYC	chr2:33925713-33925747	MCF-7	breast:	n/a	n/a
8	MYC	chr2:33925811-33925825	MCF-7	breast:	n/a	n/a
9	MYC	chr2:33925910-33926005	MCF-7	breast:	n/a	n/a
10	MYC	chr2:33925821-33926049	MCF-7	breast:	n/a	n/a
11	MYC	chr2:33925384-33925576	MCF-7	breast:	n/a	n/a
12	POLR2A	chr2:33925454-33925767	Gliobla	brain:	n/a	n/a
13	POLR2A	chr2:33926046-33926058	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:33925669-33925690	MCF-7	breast:	n/a	n/a
15	POLR2A	chr2:33925692-33926044	MCF-7	breast:	n/a	n/a
16	POLR2A	chr2:33925584-33925602	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:33926033-33926044	MCF-7	breast:	n/a	n/a
18	POLR2A	chr2:33925402-33925496	MCF-7	breast:	n/a	n/a
19	POLR2A	chr2:33925640-33925647	MCF-7	breast:	n/a	n/a
20	POLR2A	chr2:33925372-33925575	MCF-7	breast:	n/a	n/a
21	POLR2A	chr2:33925853-33926030	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:33925389-33925397	MCF-7	breast:	n/a	n/a
23	POLR2A	chr2:33925262-33926027	A549	lung:	n/a	n/a
24	POLR2A	chr2:33926059-33926065	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33926109..33928802-chr2:33930360..33932286,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203386	TF binding region
ENSG00000203386	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:215 , 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	rs80016439	chr2:33923660-33923661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58816736	chr2:33923698-33923699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572550995	chr2:33923746-33923747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575267662	chr2:33923774-33923775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544324187	chr2:33923797-33923798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375612456	chr2:33923801-33923802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184200236	chr2:33923830-33923831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577609040	chr2:33923845-33923846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559213717	chr2:33923863-33923864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150970088	chr2:33923870-33923871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1448556	chr2:33923921-33923922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs190402889	chr2:33924034-33924035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114352479	chr2:33924077-33924078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569692853	chr2:33924130-33924131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562367937	chr2:33924140-33924141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375313286	chr2:33924214-33924215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531187110	chr2:33924226-33924227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543380986	chr2:33924234-33924235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551093508	chr2:33924255-33924256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114212778	chr2:33924272-33924273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533364509	chr2:33924289-33924290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1900775	chr2:33924304-33924305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs11333886	chr2:33924335-33924336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559480917	chr2:33924336-33924337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372965505	chr2:33924348-33924349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200735452	chr2:33924350-33924351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567187786	chr2:33924359-33924360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576857879	chr2:33924363-33924364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536031125	chr2:33924413-33924414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555975865	chr2:33924436-33924437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541142351	chr2:33924453-33924454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569471433	chr2:33924457-33924458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116045829	chr2:33924461-33924462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559840216	chr2:33924475-33924476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557884469	chr2:33924485-33924486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577522175	chr2:33924506-33924507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539855882	chr2:33924513-33924514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75256657	chr2:33924525-33924526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534931343	chr2:33924536-33924537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73927902	chr2:33924584-33924585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144816435	chr2:33924588-33924589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562832394	chr2:33924601-33924602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562532309	chr2:33924602-33924603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549164238	chr2:33924623-33924624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73929503	chr2:33924624-33924625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs202102434	chr2:33924637-33924638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200587693	chr2:33924638-33924639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78449588	chr2:33924639-33924640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66570147	chr2:33924640-33924641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544332894	chr2:33924645-33924646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33923000-33929200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:33924800-33925000	Enhancers	Right Ventricle	heart
3	chr2:33925000-33929400	Weak transcription	Right Ventricle	heart
4	chr2:33925200-33925600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:33925600-33926000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:33925600-33926000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:33926000-33926200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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