Variant report

Variant	esv3500167
Chromosome Location	chr1:76132764-76136162
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	chr1:76135960..76138598-chr1:76257398..76259099,2	K562	blood:
2	chr1:76135232..76136937-chr1:76193196..76195615,2	K562	blood:

Variant related genes	Relation type
ENSG00000137955	chromatin interactions

Extended variants
information (count: 134 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563295033	chr1:76132768-76132769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567206376	chr1:76132783-76132784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111985396	chr1:76132792-76132793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369045121	chr1:76132812-76132813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11163928	chr1:76132849-76132850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs182064918	chr1:76132900-76132901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529113964	chr1:76132928-76132929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115631374	chr1:76132939-76132940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566008861	chr1:76132940-76132941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539744342	chr1:76132952-76132953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557791784	chr1:76132957-76132958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528962169	chr1:76132992-76132993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568053410	chr1:76133076-76133077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569632442	chr1:76133082-76133083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537163186	chr1:76133101-76133102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs814852	chr1:76133109-76133110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187808826	chr1:76133119-76133120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111464367	chr1:76133127-76133128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149746455	chr1:76133139-76133140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577918482	chr1:76133162-76133163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570550116	chr1:76133177-76133178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111988180	chr1:76133184-76133185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145604396	chr1:76133205-76133206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60378926	chr1:76133254-76133255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs814853	chr1:76133260-76133261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs536771844	chr1:76133286-76133287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552523622	chr1:76133292-76133293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28710280	chr1:76133301-76133302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542590394	chr1:76133344-76133345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561468627	chr1:76133396-76133397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34468948	chr1:76133409-76133410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183783440	chr1:76133419-76133420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547619750	chr1:76133422-76133423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559238227	chr1:76133429-76133430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541742976	chr1:76133430-76133431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555294761	chr1:76133434-76133435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138005705	chr1:76133438-76133439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551671019	chr1:76133520-76133521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202243857	chr1:76133543-76133544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142966382	chr1:76133547-76133548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569941899	chr1:76133556-76133557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537075676	chr1:76133562-76133563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575603466	chr1:76133583-76133584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544377987	chr1:76133664-76133665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548690658	chr1:76133708-76133709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188793083	chr1:76133710-76133711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141317266	chr1:76133760-76133761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs118041896	chr1:76133779-76133780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145032002	chr1:76133822-76133823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs814854	chr1:76133823-76133824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

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
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76129200-76136400	Weak transcription	HepG2	liver
2	chr1:76131200-76137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:76133800-76136600	Weak transcription	K562	blood

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