Variant report

Variant	esv2483783
Chromosome Location	chr4:86309764-86311340
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	chr4:86310843..86313430-chr4:86339747..86342570,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560634100	chr4:86309798-86309799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555252951	chr4:86309799-86309800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs381032	chr4:86309824-86309825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs73831908	chr4:86309850-86309851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558817435	chr4:86309880-86309881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528014408	chr4:86309894-86309895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577246262	chr4:86309904-86309905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541136362	chr4:86309927-86309928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56310630	chr4:86309962-86309963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182713845	chr4:86309970-86309971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571863258	chr4:86310014-86310015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542561218	chr4:86310077-86310078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs389451	chr4:86310088-86310089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531243803	chr4:86310122-86310123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112576255	chr4:86310128-86310129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549732017	chr4:86310135-86310136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536434202	chr4:86310178-86310179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374336228	chr4:86310179-86310180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552858404	chr4:86310182-86310183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564700119	chr4:86310197-86310198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145676632	chr4:86310231-86310232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547135179	chr4:86310238-86310239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187535553	chr4:86310244-86310245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140032511	chr4:86310295-86310296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372626279	chr4:86310318-86310319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536833748	chr4:86310453-86310454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148536091	chr4:86310464-86310465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114127035	chr4:86310493-86310494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537470246	chr4:86310494-86310495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11737323	chr4:86310524-86310525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377227275	chr4:86310528-86310529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370112286	chr4:86310624-86310625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193285847	chr4:86310783-86310784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28608645	chr4:86310788-86310789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142290379	chr4:86310830-86310831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7654343	chr4:86310849-86310850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34667192	chr4:86310909-86310910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs3113576	chr4:86310914-86310915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7654494	chr4:86310925-86310926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs142851905	chr4:86310970-86310971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575955748	chr4:86310979-86310980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187666319	chr4:86310989-86310990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554565643	chr4:86311004-86311005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs151057871	chr4:86311025-86311026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs417036	chr4:86311052-86311053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191953343	chr4:86311058-86311059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553695804	chr4:86311087-86311088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184208862	chr4:86311146-86311147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559478861	chr4:86311216-86311217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574719243	chr4:86311251-86311252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86308400-86312800	Weak transcription	HSMMtube	muscle

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