Variant report

Variant	esv2763562
Chromosome Location	chr1:74397778-74410352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538088811	chr1:74397859-74397860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542612521	chr1:74397880-74397881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143282987	chr1:74397905-74397906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562391713	chr1:74397939-74397940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575034994	chr1:74398010-74398011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545359246	chr1:74398049-74398050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529564351	chr1:74398067-74398068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542469964	chr1:74398111-74398112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560883444	chr1:74398121-74398122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12082647	chr1:74398127-74398128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs540213764	chr1:74398167-74398168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565010508	chr1:74398179-74398180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532227385	chr1:74398183-74398184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550545476	chr1:74398236-74398237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562653358	chr1:74398245-74398246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182293253	chr1:74398277-74398278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530987443	chr1:74398289-74398290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548428657	chr1:74398298-74398299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375670798	chr1:74398341-74398342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533957836	chr1:74398347-74398348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552137033	chr1:74398396-74398397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537108809	chr1:74408674-74408675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72685866	chr1:74408747-74408748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534111701	chr1:74408782-74408783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193256677	chr1:74408783-74408784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34167477	chr1:74408955-74408956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577459110	chr1:74408972-74408973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545070107	chr1:74408978-74408979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556951098	chr1:74408991-74408992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576752393	chr1:74408993-74408994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575421298	chr1:74408995-74408996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1671057	chr1:74409027-74409028	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs538998234	chr1:74409033-74409034	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs560798387	chr1:74409104-74409105	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533900519	chr1:74409128-74409129	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540044207	chr1:74409154-74409155	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565228230	chr1:74409155-74409156	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532256980	chr1:74409197-74409198	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs202153215	chr1:74409200-74409201	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552199693	chr1:74409204-74409205	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550569156	chr1:74409222-74409223	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572378897	chr1:74409265-74409266	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540294460	chr1:74409266-74409267	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542819266	chr1:74409268-74409269	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530157950	chr1:74409290-74409291	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548305625	chr1:74409295-74409296	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59514829	chr1:74409406-74409407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150224304	chr1:74409444-74409445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372877903	chr1:74409455-74409456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534448077	chr1:74409462-74409463	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74396400-74398200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:74398200-74398400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:74408600-74410000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:74408600-74410000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:74408800-74409000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:74408800-74409000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:74408800-74409600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:74409000-74409200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:74409000-74409400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:74409000-74409400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:74409000-74409400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:74409000-74409400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:74409000-74409400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:74409000-74409600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:74409200-74409400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:74409200-74409600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:74409200-74409600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:74409400-74409800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:74409400-74409800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:74409400-74410000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:74410000-74415000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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