Variant report

Variant	esv3322040
Chromosome Location	chr5:120390253-120392401
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	ELK1	chr5:120390270-120390366	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:120390605-120390753	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000248853	TF binding region

Extended variants
information (count: 182 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529130102	chr5:120390267-120390268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72787797	chr5:120390292-120390293	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs17447334	chr5:120390306-120390307	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564922528	chr5:120390314-120390315	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533286072	chr5:120390319-120390320	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs78956265	chr5:120390330-120390331	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1363535	chr5:120390372-120390373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537698651	chr5:120390378-120390379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184678725	chr5:120390408-120390409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374922197	chr5:120390424-120390425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567996046	chr5:120390436-120390437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147951465	chr5:120390442-120390443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74205248	chr5:120390468-120390469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553825705	chr5:120390503-120390504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73266514	chr5:120390512-120390513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539169534	chr5:120390540-120390541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557876539	chr5:120390620-120390621	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370328469	chr5:120390627-120390628	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs190181283	chr5:120390648-120390649	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs372742322	chr5:120390668-120390669	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11959538	chr5:120390693-120390694	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561530476	chr5:120390699-120390700	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs111705404	chr5:120390707-120390708	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113137483	chr5:120390720-120390721	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs181754793	chr5:120390765-120390766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373627667	chr5:120390800-120390801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370430815	chr5:120390801-120390802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200075937	chr5:120390825-120390826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201250107	chr5:120390826-120390827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202017489	chr5:120390828-120390829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113645143	chr5:120390832-120390833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11956519	chr5:120390840-120390841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545071560	chr5:120390842-120390843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371473685	chr5:120390845-120390846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186592706	chr5:120390848-120390849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs70985259	chr5:120390850-120390851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563835306	chr5:120390858-120390859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373418616	chr5:120390866-120390867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149152572	chr5:120390868-120390869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143284479	chr5:120390869-120390870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11956548	chr5:120390890-120390891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140273538	chr5:120390893-120390894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571839993	chr5:120390906-120390907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539465560	chr5:120390913-120390914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112600261	chr5:120390914-120390915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550392528	chr5:120390916-120390917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62382469	chr5:120390917-120390918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138093150	chr5:120390930-120390931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555163852	chr5:120390932-120390933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573454001	chr5:120390933-120390934	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120389600-120392200	Enhancers	Dnd41	blood

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