Variant report

Variant	esv1837401
Chromosome Location	chr1:78595297-78597844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78596135..78597095-chr1:79035945..79036466,2	MCF-7	breast:
2	chr1:78593850..78595901-chr1:78596317..78598534,2	K562	blood:
3	chr1:78589424..78592317-chr1:78594735..78598058,3	K562	blood:
4	chr1:78590091..78592317-chr1:78595079..78598058,2	K562	blood:
5	chr1:78594062..78596652-chr1:78598664..78601035,2	K562	blood:
6	chr1:78593850..78595901-chr1:78596317..78598534,2	K562	blood:
7	chr1:78595990..78596703-chr1:79072748..79073691,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17098321	chr1:78595297-78595298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531001552	chr1:78595317-78595318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549416573	chr1:78595318-78595319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567626874	chr1:78595339-78595340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574901347	chr1:78595349-78595350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540404345	chr1:78595359-78595360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs614836	chr1:78595362-78595363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs538897197	chr1:78595370-78595371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs651413	chr1:78595381-78595382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs531841	chr1:78595387-78595388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs535909182	chr1:78595399-78595400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76282689	chr1:78595400-78595401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572458395	chr1:78595406-78595407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533539989	chr1:78595447-78595448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550486271	chr1:78595508-78595509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558617589	chr1:78595590-78595591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577049332	chr1:78595624-78595625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544101638	chr1:78595633-78595634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145576763	chr1:78595646-78595647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61026507	chr1:78595653-78595654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398074081	chr1:78595661-78595662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202205452	chr1:78595663-78595664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150454051	chr1:78595710-78595711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575820027	chr1:78595716-78595717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538834556	chr1:78595740-78595741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543099185	chr1:78595759-78595760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369892829	chr1:78595805-78595806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561366792	chr1:78595822-78595823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528537542	chr1:78595856-78595857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188272719	chr1:78595868-78595869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565469003	chr1:78595870-78595871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374099248	chr1:78595872-78595873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74933226	chr1:78595889-78595890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192836223	chr1:78595931-78595932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569392163	chr1:78595942-78595943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535945048	chr1:78595945-78595946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138299279	chr1:78595963-78595964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566218588	chr1:78596011-78596012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533575814	chr1:78596047-78596048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185223100	chr1:78596081-78596082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560271416	chr1:78596235-78596236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377126383	chr1:78596252-78596253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577082592	chr1:78596257-78596258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149635789	chr1:78596274-78596275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146908101	chr1:78596290-78596291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs609390	chr1:78596312-78596313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs599987	chr1:78596328-78596329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561402935	chr1:78596342-78596343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190104537	chr1:78596372-78596373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563661825	chr1:78596417-78596418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78555400-78608600	Weak transcription	Pancreas	Pancrea
2	chr1:78567600-78607200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:78580200-78598000	Weak transcription	Aorta	Aorta
4	chr1:78580200-78608600	Weak transcription	HepG2	liver
5	chr1:78584200-78630600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:78584400-78597200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:78586400-78608600	Weak transcription	Colonic Mucosa	Colon
8	chr1:78587400-78607200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:78588200-78597600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:78594400-78598600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:78594600-78600000	Weak transcription	Fetal Intestine Small	intestine
12	chr1:78594600-78600400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:78594600-78604600	Weak transcription	Liver	Liver
14	chr1:78597600-78597800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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