Variant report

Variant	nsv518037
Chromosome Location	chr4:187299297-187313377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 396 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540558429	chr4:187303216-187303217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373666157	chr4:187303225-187303226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184807761	chr4:187303229-187303230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111658280	chr4:187303246-187303247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577006390	chr4:187303257-187303258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7675440	chr4:187303264-187303265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370570148	chr4:187303290-187303291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531313983	chr4:187303294-187303295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547846611	chr4:187303296-187303297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10032656	chr4:187303301-187303302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527273061	chr4:187303362-187303363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547718068	chr4:187303375-187303376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189749496	chr4:187303376-187303377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs58856998	chr4:187303378-187303379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550112557	chr4:187303427-187303428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181398741	chr4:187303468-187303469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535972505	chr4:187303472-187303473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555873220	chr4:187303479-187303480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550148020	chr4:187303496-187303497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370483010	chr4:187303497-187303498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535004162	chr4:187303530-187303531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375990013	chr4:187303596-187303597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554080469	chr4:187303648-187303649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74786178	chr4:187303692-187303693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143422225	chr4:187303738-187303739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184355715	chr4:187303764-187303765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189156552	chr4:187303783-187303784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143851554	chr4:187303813-187303814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368873089	chr4:187303814-187303815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181810942	chr4:187303825-187303826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148650251	chr4:187303887-187303888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186533671	chr4:187303930-187303931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34656431	chr4:187303944-187303945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6839207	chr4:187303948-187303949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372424114	chr4:187303957-187303958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564065212	chr4:187303982-187303983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533467323	chr4:187303983-187303984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541373404	chr4:187304033-187304034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200886224	chr4:187304051-187304052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190938344	chr4:187304066-187304067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570179257	chr4:187304070-187304071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150675619	chr4:187304096-187304097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139897982	chr4:187304103-187304104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371821564	chr4:187304115-187304116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143768514	chr4:187304147-187304148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533216972	chr4:187304164-187304165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181051455	chr4:187304172-187304173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557875141	chr4:187304234-187304235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571581882	chr4:187304237-187304238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539374009	chr4:187304324-187304325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	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
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187303200-187303600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:187303400-187303800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:187303600-187313200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:187313200-187313400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:187313200-187313600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:187313200-187313600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:187313200-187313600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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