Variant report

Variant	esv3467526
Chromosome Location	chr4:187880283-187893807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187759553..187761639-chr4:187893343..187896166,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368927310	chr4:187880294-187880295	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs146728178	chr4:187880298-187880299	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs140260152	chr4:187880313-187880314	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs190996348	chr4:187880314-187880315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs150381891	chr4:187880357-187880358	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs181784209	chr4:187880365-187880366	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs138074403	chr4:187880377-187880378	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs149041635	chr4:187880384-187880385	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs13119348	chr4:187880397-187880398	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs114455250	chr4:187880410-187880411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549207770	chr4:187880413-187880414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559506510	chr4:187880418-187880419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77119715	chr4:187880421-187880422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13119386	chr4:187880436-187880437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs145755191	chr4:187880437-187880438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577667253	chr4:187880456-187880457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13120002	chr4:187880472-187880473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536660147	chr4:187880475-187880476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62343157	chr4:187880477-187880478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13119419	chr4:187880478-187880479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536341928	chr4:187880482-187880483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553236509	chr4:187880484-187880485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113862789	chr4:187880500-187880501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111730135	chr4:187880503-187880504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572927936	chr4:187880507-187880508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190865385	chr4:187880508-187880509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558593098	chr4:187880510-187880511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113202758	chr4:187880520-187880521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13124773	chr4:187880527-187880528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112214449	chr4:187880532-187880533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13124782	chr4:187880536-187880537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13124968	chr4:187880537-187880538	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs13124985	chr4:187880559-187880560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575454851	chr4:187880560-187880561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113139746	chr4:187880562-187880563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543413762	chr4:187880572-187880573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111454261	chr4:187880580-187880581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183005000	chr4:187880587-187880588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78760414	chr4:187880594-187880595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75488575	chr4:187880597-187880598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113983775	chr4:187880601-187880602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528698211	chr4:187880609-187880610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112843929	chr4:187880610-187880611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112566592	chr4:187880621-187880622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113591468	chr4:187880624-187880625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113187541	chr4:187880631-187880632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112032284	chr4:187880639-187880640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113760103	chr4:187880650-187880651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113734229	chr4:187880653-187880654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111830486	chr4:187880660-187880661	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187868400-187880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187879400-187880400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr4:187880000-187880400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:187880200-187880400	Bivalent Enhancer	NHEK	skin

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