Variant report

Variant	esv2387627
Chromosome Location	chr5:180066048-180066454
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	chr5:180065065..180066811-chr5:180072819..180075038,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386695790	chr5:180066097-180066098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145332949	chr5:180066098-180066099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183700787	chr5:180066178-180066179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188989647	chr5:180066179-180066180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201376114	chr5:180066190-180066191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376170489	chr5:180066195-180066196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375229002	chr5:180066196-180066197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187153557	chr5:180066203-180066204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538753424	chr5:180066215-180066216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552221399	chr5:180066216-180066217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547873604	chr5:180066222-180066223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28626990	chr5:180066240-180066241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111163393	chr5:180066242-180066243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28491030	chr5:180066258-180066259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192085230	chr5:180066322-180066323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181536893	chr5:180066323-180066324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568966884	chr5:180066327-180066328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374365180	chr5:180066334-180066335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538085467	chr5:180066337-180066338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185842151	chr5:180066339-180066340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190313301	chr5:180066340-180066341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545022264	chr5:180066379-180066380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376819926	chr5:180066382-180066383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66837141	chr5:180066400-180066401	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114547815	chr5:180066447-180066448	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180046200-180071800	Weak transcription	Liver	Liver
2	chr5:180046400-180072200	Weak transcription	Right Atrium	heart
3	chr5:180056800-180068400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:180064000-180066400	Weak transcription	Adipose Nuclei	Adipose
5	chr5:180064000-180066400	Weak transcription	Spleen	Spleen
6	chr5:180064600-180066800	Weak transcription	Right Ventricle	heart
7	chr5:180065400-180066600	Weak transcription	Lung	lung
8	chr5:180065400-180069600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:180065600-180066600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:180065600-180067000	Weak transcription	Left Ventricle	heart
11	chr5:180066400-180066600	Active TSS	Fetal Kidney	kidney
12	chr5:180066400-180067600	Enhancers	Adipose Nuclei	Adipose
13	chr5:180066400-180075600	Enhancers	Spleen	Spleen

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