Variant report

Variant	esv1809547
Chromosome Location	chr4:173427242-173437677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3104245	chr4:173434869-173434870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114653091	chr4:173434920-173434921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528511118	chr4:173434961-173434962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185741908	chr4:173434986-173434987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568573465	chr4:173434990-173434991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536412749	chr4:173435005-173435006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs137867352	chr4:173435030-173435031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569795292	chr4:173435052-173435053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142357879	chr4:173435056-173435057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538624	chr4:173435062-173435063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145958094	chr4:173435064-173435065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534338809	chr4:173435093-173435094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80169749	chr4:173435113-173435114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112898490	chr4:173435173-173435174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574203005	chr4:173435243-173435244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543152190	chr4:173435251-173435252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557509845	chr4:173435276-173435277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189871412	chr4:173435283-173435284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181624409	chr4:173435323-173435324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367698071	chr4:173435327-173435328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371656751	chr4:173435346-173435347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559820293	chr4:173435404-173435405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528450570	chr4:173435405-173435406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542256074	chr4:173435413-173435414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370102	chr4:173435447-173435448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185396015	chr4:173435453-173435454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs446013	chr4:173435493-173435494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546378898	chr4:173435532-173435533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373866591	chr4:173435583-173435584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190260474	chr4:173435594-173435595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569814566	chr4:173435595-173435596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180826659	chr4:173435620-173435621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552419407	chr4:173435621-173435622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565641069	chr4:173435657-173435658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185765192	chr4:173435668-173435669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116046862	chr4:173435679-173435680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191095112	chr4:173435704-173435705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148218422	chr4:173435787-173435788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs423496	chr4:173435818-173435819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199699128	chr4:173435819-173435820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546087071	chr4:173435849-173435850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369765181	chr4:173435850-173435851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141230943	chr4:173435886-173435887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532024260	chr4:173435914-173435915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183738569	chr4:173435923-173435924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78996116	chr4:173435934-173435935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530960707	chr4:173435946-173435947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187592080	chr4:173435954-173435955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79946964	chr4:173435973-173435974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532287049	chr4:173435980-173435981	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173434800-173436000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:173434800-173436600	Enhancers	Hela-S3	cervix
3	chr4:173434800-173437200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:173435000-173435800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:173435600-173436400	Enhancers	NH-A	brain
6	chr4:173436000-173438400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:173436400-173436800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:173436600-173438000	Weak transcription	Hela-S3	cervix

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