Variant report

Variant	esv2640340
Chromosome Location	chr4:86238297-86239756
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	chr4:86234301..86236109-chr4:86239273..86242093,2	K562	blood:
2	chr4:86048857..86049411-chr4:86239183..86239916,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528116268	chr4:86238314-86238315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77454062	chr4:86238353-86238354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530879359	chr4:86238390-86238391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560934594	chr4:86238408-86238409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531954579	chr4:86238458-86238459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528544682	chr4:86238505-86238506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183179260	chr4:86238516-86238517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72955756	chr4:86238544-86238545	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532886601	chr4:86238551-86238552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs901122	chr4:86238580-86238581	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373797703	chr4:86238627-86238628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113579964	chr4:86238688-86238689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192678916	chr4:86238723-86238724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115291196	chr4:86238771-86238772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185730637	chr4:86238797-86238798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571584354	chr4:86238847-86238848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199643307	chr4:86238922-86238923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537133045	chr4:86238946-86238947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116120211	chr4:86238954-86238955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11931292	chr4:86238964-86238965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs79628384	chr4:86238979-86238980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs66483940	chr4:86238980-86238981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11931323	chr4:86239048-86239049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368781542	chr4:86239058-86239059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4423866	chr4:86239068-86239069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572090677	chr4:86239096-86239097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189270600	chr4:86239118-86239119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377274211	chr4:86239165-86239166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138676966	chr4:86239179-86239180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567448068	chr4:86239189-86239190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576230979	chr4:86239310-86239311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138097840	chr4:86239388-86239389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536586436	chr4:86239439-86239440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543148582	chr4:86239457-86239458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565514949	chr4:86239470-86239471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370510582	chr4:86239503-86239504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553185630	chr4:86239574-86239575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566699508	chr4:86239647-86239648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559769659	chr4:86239657-86239658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530050797	chr4:86239686-86239687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539837975	chr4:86239744-86239745	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86237800-86238800	Enhancers	Adipose Nuclei	Adipose
2	chr4:86238800-86239200	Weak transcription	Adipose Nuclei	Adipose
3	chr4:86239200-86240200	Enhancers	Adipose Nuclei	Adipose
4	chr4:86239400-86240200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:86239400-86240200	Enhancers	NHEK	skin
6	chr4:86239400-86240400	Enhancers	HMEC	breast

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