Variant report

Variant	esv3322500
Chromosome Location	chr4:187796558-187800756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187792239..187794377-chr4:187799784..187802289,2	MCF-7	breast:
2	chr4:187765084..187768724-chr4:187798597..187801696,3	K562	blood:
3	chr4:187799748..187802550-chr4:187805548..187807456,2	K562	blood:
4	chr4:187765345..187768109-chr4:187793611..187797439,3	K562	blood:

Extended variants
information (count: 234 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532259593	chr4:187796609-187796610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545030399	chr4:187796618-187796619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565277394	chr4:187796621-187796622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183050859	chr4:187796690-187796691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551011823	chr4:187796700-187796701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566470930	chr4:187796735-187796736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187560261	chr4:187796834-187796835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192977179	chr4:187796837-187796838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547329718	chr4:187796852-187796853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58836636	chr4:187796868-187796869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539315140	chr4:187796912-187796913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112368469	chr4:187796924-187796925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62345966	chr4:187796936-187796937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182584383	chr4:187796946-187796947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555483056	chr4:187796955-187796956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537549187	chr4:187796993-187796994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374653825	chr4:187797021-187797022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs172818	chr4:187797022-187797023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs370432056	chr4:187797024-187797025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148420207	chr4:187797107-187797108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574307864	chr4:187797158-187797159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538075789	chr4:187797187-187797188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76359394	chr4:187797253-187797254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80157874	chr4:187797254-187797255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35606049	chr4:187797257-187797258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397776392	chr4:187797270-187797271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553530013	chr4:187797271-187797272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74397086	chr4:187797272-187797273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576775780	chr4:187797304-187797305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113657169	chr4:187797324-187797325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143619152	chr4:187797326-187797327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78180499	chr4:187797335-187797336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187583993	chr4:187797344-187797345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192014714	chr4:187797429-187797430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150820234	chr4:187797451-187797452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139327304	chr4:187797472-187797473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184949498	chr4:187797523-187797524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560663995	chr4:187797556-187797557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150010835	chr4:187797590-187797591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78388203	chr4:187797601-187797602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568781943	chr4:187797609-187797610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537817179	chr4:187797629-187797630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189276558	chr4:187797678-187797679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533414479	chr4:187797724-187797725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567845983	chr4:187797785-187797786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533640328	chr4:187797795-187797796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112597217	chr4:187797805-187797806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576587718	chr4:187797841-187797842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572408024	chr4:187797936-187797937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77132317	chr4:187797938-187797939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187796600-187806400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:187798400-187798800	Active TSS	Fetal Kidney	kidney
3	chr4:187799400-187799600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:187799400-187799600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:187799400-187800000	Enhancers	Fetal Muscle Leg	muscle
6	chr4:187799400-187801000	Enhancers	NHDF-Ad	bronchial
7	chr4:187799600-187802000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:187799600-187802000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:187799800-187801000	Enhancers	HSMMtube	muscle
10	chr4:187800400-187800600	Enhancers	Osteobl	bone

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