Variant report

Variant	esv33557
Chromosome Location	chr1:84236172-84236848
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	chr1:84233925..84236856-chr1:84240562..84242993,3	K562	blood:
2	chr1:84233925..84236856-chr1:84240562..84242799,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543559672	chr1:84236175-84236176	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534200730	chr1:84236183-84236184	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554084030	chr1:84236201-84236202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576759080	chr1:84236285-84236286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545736514	chr1:84236293-84236294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563651324	chr1:84236294-84236295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76619778	chr1:84236353-84236354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562352817	chr1:84236367-84236368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7524397	chr1:84236405-84236406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10489500	chr1:84236434-84236435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190660951	chr1:84236469-84236470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs67983151	chr1:84236471-84236472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113084792	chr1:84236479-84236480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373186936	chr1:84236493-84236494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527513903	chr1:84236525-84236526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10489501	chr1:84236543-84236544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs370829163	chr1:84236545-84236546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17129344	chr1:84236552-84236553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533082635	chr1:84236559-84236560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17129346	chr1:84236574-84236575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569175184	chr1:84236582-84236583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1983637	chr1:84236622-84236623	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75424080	chr1:84236638-84236639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36017423	chr1:84236639-84236640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10489502	chr1:84236661-84236662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs200047707	chr1:84236672-84236673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181510010	chr1:84236673-84236674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74094961	chr1:84236705-84236706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11807908	chr1:84236714-84236715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200909198	chr1:84236720-84236721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556093835	chr1:84236721-84236722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375131482	chr1:84236725-84236726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76196008	chr1:84236727-84236728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575974428	chr1:84236728-84236729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185458139	chr1:84236746-84236747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549408830	chr1:84236793-84236794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375972040	chr1:84236820-84236821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189567240	chr1:84236846-84236847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	22522925	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84234600-84236200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:84234600-84236200	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:84234600-84236400	Enhancers	Primary B cells from cord blood	blood
4	chr1:84234800-84236200	Enhancers	Fetal Brain Male	brain
5	chr1:84234800-84236200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:84235000-84236400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:84235600-84236200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:84235800-84236200	Enhancers	Brain Substantia Nigra	brain
9	chr1:84236000-84237200	Enhancers	Liver	Liver
10	chr1:84236400-84237400	Weak transcription	Primary B cells from cord blood	blood

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