Variant report

Variant	esv2515465
Chromosome Location	chr4:21694330-21695795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:21694177-21694417	HepG2	liver:	n/a	chr4:21694293-21694309 chr4:21694298-21694309 chr4:21694298-21694309
2	MXI1	chr4:21695582-21700436	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr4:21695565-21695737	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000248343	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188604877	chr4:21694368-21694369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs181356799	chr4:21694373-21694374	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557195404	chr4:21694432-21694433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35231092	chr4:21694450-21694451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35846347	chr4:21694451-21694452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78327480	chr4:21694453-21694454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397772811	chr4:21694467-21694468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397992515	chr4:21694473-21694474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574913183	chr4:21694483-21694484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542204010	chr4:21694511-21694512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554288145	chr4:21694524-21694525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369927076	chr4:21694597-21694598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186460828	chr4:21694625-21694626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560292325	chr4:21694689-21694690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139912263	chr4:21694708-21694709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531982376	chr4:21694725-21694726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386672424	chr4:21694731-21694732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376865451	chr4:21694733-21694734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370405097	chr4:21694734-21694735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373604532	chr4:21694735-21694736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540277435	chr4:21694780-21694781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551757575	chr4:21694911-21694912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548430579	chr4:21694938-21694939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190103567	chr4:21694965-21694966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544202078	chr4:21694966-21694967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558981199	chr4:21695005-21695006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370790300	chr4:21695012-21695013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530962638	chr4:21695016-21695017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373794903	chr4:21695056-21695057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143423006	chr4:21695057-21695058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181749459	chr4:21695076-21695077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376831159	chr4:21695077-21695078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372942683	chr4:21695181-21695182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374445031	chr4:21695185-21695186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13127601	chr4:21695191-21695192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550888017	chr4:21695195-21695196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569202104	chr4:21695242-21695243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535893392	chr4:21695296-21695297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146756242	chr4:21695308-21695309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73256522	chr4:21695340-21695341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370339811	chr4:21695355-21695356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533667413	chr4:21695524-21695525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74973539	chr4:21695589-21695590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs140371219	chr4:21695605-21695606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs537737373	chr4:21695652-21695653	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs544380383	chr4:21695687-21695688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs150378996	chr4:21695716-21695717	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368419897	chr4:21695775-21695776	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371880026	chr4:21695776-21695777	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21693600-21694600	Enhancers	Fetal Lung	lung
2	chr4:21693800-21694600	Enhancers	Colon Smooth Muscle	Colon
3	chr4:21694000-21699200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:21694600-21698600	Weak transcription	Fetal Lung	lung
5	chr4:21694600-21699200	Weak transcription	Colon Smooth Muscle	Colon

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