Variant report

Variant	esv1805807
Chromosome Location	chr4:187353496-187358097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 435 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79417939	chr4:187353497-187353498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149135742	chr4:187353500-187353501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57066319	chr4:187353508-187353509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77800306	chr4:187353510-187353511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74631651	chr4:187353518-187353519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74338499	chr4:187353520-187353521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547461266	chr4:187353527-187353528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370132528	chr4:187353533-187353534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184825523	chr4:187353542-187353543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367709383	chr4:187353546-187353547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372920226	chr4:187353550-187353551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368020824	chr4:187353554-187353555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376668631	chr4:187353555-187353556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs58846051	chr4:187353556-187353557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372542024	chr4:187353557-187353558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75222360	chr4:187353564-187353565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200687197	chr4:187353565-187353566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377216105	chr4:187353566-187353567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372784553	chr4:187353579-187353580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570854986	chr4:187353583-187353584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539523355	chr4:187353584-187353585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112681447	chr4:187353595-187353596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74788612	chr4:187353600-187353601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75118473	chr4:187353603-187353604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112783825	chr4:187353610-187353611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112860649	chr4:187353612-187353613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369355531	chr4:187353617-187353618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74648289	chr4:187353625-187353626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373258680	chr4:187353641-187353642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375562210	chr4:187353649-187353650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75022536	chr4:187353658-187353659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77966847	chr4:187353669-187353670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78820526	chr4:187353671-187353672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75525598	chr4:187353692-187353693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75237231	chr4:187353695-187353696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201969468	chr4:187353701-187353702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376414144	chr4:187353717-187353718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79393457	chr4:187353733-187353734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111864389	chr4:187353738-187353739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372551827	chr4:187353749-187353750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376919822	chr4:187353750-187353751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370560354	chr4:187353761-187353762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374575699	chr4:187353777-187353778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78667498	chr4:187353816-187353817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368289405	chr4:187353817-187353818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76362599	chr4:187353818-187353819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78553637	chr4:187353829-187353830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79758493	chr4:187353831-187353832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374989846	chr4:187353835-187353836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144170783	chr4:187353852-187353853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187353200-187354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187354000-187354400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:187354000-187357000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:187354400-187357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:187357000-187357200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:187357000-187357800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:187357000-187357800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:187357000-187357800	ZNF genes & repeats	Gastric	stomach
9	chr4:187357600-187357800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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