Variant report

Variant	esv3420862
Chromosome Location	chr1:71132408-71133777
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	chr1:71131135..71133902-chr1:71140118..71142284,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 111 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529862420	chr1:71132530-71132531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6683555	chr1:71132536-71132537	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs563219209	chr1:71132579-71132580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576883641	chr1:71132591-71132592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551352583	chr1:71132601-71132602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571454786	chr1:71132630-71132631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527787651	chr1:71132692-71132693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547829982	chr1:71132699-71132700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61635159	chr1:71132700-71132701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536829442	chr1:71132718-71132719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550525380	chr1:71132722-71132723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183211191	chr1:71132729-71132730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35247277	chr1:71132734-71132735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570350241	chr1:71132739-71132740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538681487	chr1:71132752-71132753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558587843	chr1:71132841-71132842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116214508	chr1:71132843-71132844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558823516	chr1:71132857-71132858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534434291	chr1:71132877-71132878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554620040	chr1:71132890-71132891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60899217	chr1:71132893-71132894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75493033	chr1:71132900-71132901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185356900	chr1:71132920-71132921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147320417	chr1:71132992-71132993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72052983	chr1:71132993-71132994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs58423511	chr1:71132995-71132996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563283638	chr1:71133034-71133035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189721707	chr1:71133035-71133036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545647717	chr1:71133113-71133114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17131389	chr1:71133126-71133127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527652921	chr1:71133149-71133150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143047911	chr1:71133189-71133190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17131391	chr1:71133243-71133244	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530268637	chr1:71133244-71133245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2820530	chr1:71133252-71133253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374590541	chr1:71133318-71133319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570213347	chr1:71133328-71133329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370761378	chr1:71133330-71133331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371908671	chr1:71133374-71133375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561657839	chr1:71133375-71133376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552868503	chr1:71133457-71133458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147454170	chr1:71133471-71133472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534588628	chr1:71133495-71133496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554402024	chr1:71133598-71133599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12122295	chr1:71133613-71133614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140012760	chr1:71133658-71133659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1932055	chr1:71133662-71133663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1932056	chr1:71133704-71133705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142858819	chr1:71133706-71133707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541103233	chr1:71133714-71133715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Melanoma	17363583	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
small cell lung cancer	20016488	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71132000-71134600	Enhancers	Fetal Heart	heart
2	chr1:71132200-71132600	Enhancers	Esophagus	oesophagus
3	chr1:71132200-71132800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:71132200-71132800	Enhancers	Gastric	stomach
5	chr1:71132200-71132800	Enhancers	Left Ventricle	heart
6	chr1:71132200-71132800	Enhancers	Lung	lung
7	chr1:71132200-71132800	Enhancers	Right Atrium	heart
8	chr1:71132200-71133000	Enhancers	Aorta	Aorta
9	chr1:71132200-71133000	Enhancers	Pancreas	Pancrea
10	chr1:71132200-71133800	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:71132400-71132600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:71132400-71133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:71132400-71137600	Weak transcription	Fetal Lung	lung
14	chr1:71132600-71133400	Enhancers	K562	blood
15	chr1:71132800-71133800	Weak transcription	Left Ventricle	heart
16	chr1:71132800-71133800	Weak transcription	Right Atrium	heart
17	chr1:71132800-71136800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:71132800-71141000	Weak transcription	Gastric	stomach
19	chr1:71133000-71133400	Weak transcription	Pancreas	Pancrea
20	chr1:71133000-71133600	Weak transcription	Aorta	Aorta
21	chr1:71133200-71133800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:71133400-71134000	Enhancers	Pancreas	Pancrea
23	chr1:71133400-71136400	Weak transcription	K562	blood
24	chr1:71133600-71133800	Enhancers	Aorta	Aorta
25	chr1:71133600-71134000	Enhancers	NHDF-Ad	bronchial
26	chr1:71133600-71134400	Enhancers	Fetal Stomach	stomach

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