Variant report

Variant	esv3364645
Chromosome Location	chr1:90848307-90848898
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	chr1:90734199..90736492-chr1:90847892..90850579,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554422343	chr1:90848334-90848335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564150625	chr1:90848338-90848339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530868053	chr1:90848339-90848340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200095731	chr1:90848402-90848403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536375952	chr1:90848483-90848484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34540257	chr1:90848492-90848493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190620299	chr1:90848509-90848510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183536016	chr1:90848519-90848520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113654800	chr1:90848618-90848619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577845813	chr1:90848717-90848718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543796316	chr1:90848730-90848731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540551162	chr1:90848759-90848760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187825782	chr1:90848765-90848766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560063172	chr1:90848771-90848772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140950851	chr1:90848794-90848795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74102643	chr1:90848829-90848830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368074274	chr1:90848844-90848845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544866151	chr1:90848845-90848846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559935333	chr1:90848851-90848852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141656479	chr1:90848852-90848853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114819407	chr1:90848866-90848867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21922591	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:90844000-90853000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:90847800-90848600	Weak transcription	Fetal Brain Female	brain
3	chr1:90848200-90849200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:90848200-90849600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:90848600-90849000	Enhancers	Fetal Brain Female	brain

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