Variant report

Variant	esv3340542
Chromosome Location	chr4:20039204-20041152
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	MAX	chr4:20039595-20039729	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr4:20041130-20041157	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNIP4-4	chr4:20039183-20039595	NONHSAT095729

Variant related genes	Relation type
ENSG00000250611	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555985739	chr4:20039207-20039208	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs370537151	chr4:20039237-20039238	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs532985521	chr4:20039295-20039296	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs144802075	chr4:20039334-20039335	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs551129294	chr4:20039358-20039359	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569625278	chr4:20039375-20039376	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142990458	chr4:20039386-20039387	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs548751288	chr4:20039406-20039407	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs557531870	chr4:20039407-20039408	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs567245644	chr4:20039411-20039412	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs370050679	chr4:20039423-20039424	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs534452930	chr4:20039434-20039435	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs553010118	chr4:20039475-20039476	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs78651652	chr4:20039478-20039479	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs376999723	chr4:20039492-20039493	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs539250204	chr4:20039493-20039494	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186231865	chr4:20039509-20039510	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs147460359	chr4:20039554-20039555	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs16869093	chr4:20039593-20039594	Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs115957364	chr4:20039636-20039637	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573170914	chr4:20039676-20039677	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540237523	chr4:20039677-20039678	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565397482	chr4:20039694-20039695	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532431482	chr4:20039699-20039700	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs4470624	chr4:20039702-20039703	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563140043	chr4:20039708-20039709	Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs189149204	chr4:20039747-20039748	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182548702	chr4:20039775-20039776	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs150014967	chr4:20039796-20039797	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534634287	chr4:20039807-20039808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546244032	chr4:20039823-20039824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377000493	chr4:20039829-20039830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs538687519	chr4:20039841-20039842	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545208415	chr4:20039913-20039914	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs564633918	chr4:20039926-20039927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557632459	chr4:20039932-20039933	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs575895012	chr4:20039934-20039935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536574281	chr4:20039938-20039939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144318401	chr4:20039970-20039971	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs202088557	chr4:20039980-20039981	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20039200-20040000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:20039400-20039600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:20039400-20039800	Active TSS	NHDF-Ad	bronchial
4	chr4:20039400-20039800	Active TSS	NHLF	lung
5	chr4:20039600-20039800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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