Variant report

Variant	esv3359779
Chromosome Location	chr1:75914980-75939472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75913816..75916653-chr1:75939102..75941877,2	K562	blood:
2	chr1:75939435..75941106-chr1:75956675..75959314,2	K562	blood:
3	chr1:75913816..75916653-chr1:75939102..75941877,2	K562	blood:
4	chr1:75934636..75936669-chr1:76193127..76195034,2	K562	blood:
5	chr1:75933652..75935311-chr1:76250222..76252176,2	K562	blood:

Variant related genes	Relation type
ENSG00000137955	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530372808	chr1:75914999-75915000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548900883	chr1:75915148-75915149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566834133	chr1:75915174-75915175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534201385	chr1:75915199-75915200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557933142	chr1:75915210-75915211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560898723	chr1:75915227-75915228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116253802	chr1:75915251-75915252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181711372	chr1:75915279-75915280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568566368	chr1:75915322-75915323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556919146	chr1:75915351-75915352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11163420	chr1:75915359-75915360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78271529	chr1:75915360-75915361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546993314	chr1:75915367-75915368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142138443	chr1:75915380-75915381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185705212	chr1:75915400-75915401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533922961	chr1:75915425-75915426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564618924	chr1:75915426-75915427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191432581	chr1:75915453-75915454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532147906	chr1:75915454-75915455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148626716	chr1:75915462-75915463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142061251	chr1:75915468-75915469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151135660	chr1:75915514-75915515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530324133	chr1:75915519-75915520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548866625	chr1:75915532-75915533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6662277	chr1:75915554-75915555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182850439	chr1:75915555-75915556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571051403	chr1:75915584-75915585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552641618	chr1:75915636-75915637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570917655	chr1:75915676-75915677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538003670	chr1:75915687-75915688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200292189	chr1:75915689-75915690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550254356	chr1:75915695-75915696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112322851	chr1:75915702-75915703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536062818	chr1:75915728-75915729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2587042	chr1:75915773-75915774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs578042911	chr1:75915793-75915794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533535048	chr1:75915811-75915812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558316296	chr1:75915825-75915826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12402118	chr1:75915826-75915827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs543931197	chr1:75915833-75915834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112560499	chr1:75915926-75915927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75382564	chr1:75915962-75915963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187918917	chr1:75915969-75915970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554353375	chr1:75915974-75915975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575060224	chr1:75916010-75916011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147635191	chr1:75916061-75916062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571632631	chr1:75916209-75916210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560752027	chr1:75916233-75916234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528034724	chr1:75916236-75916237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75161954	chr1:75916244-75916245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75914800-75915000	Enhancers	K562	blood
2	chr1:75915000-75915800	Weak transcription	K562	blood
3	chr1:75915800-75916200	Enhancers	K562	blood
4	chr1:75915800-75916400	Weak transcription	Pancreas	Pancrea
5	chr1:75916400-75916600	Enhancers	Pancreas	Pancrea
6	chr1:75916400-75916800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:75934800-75935000	Enhancers	K562	blood
8	chr1:75935000-75935400	Flanking Active TSS	K562	blood
9	chr1:75935400-75935800	Enhancers	K562	blood
10	chr1:75935800-75936800	Flanking Active TSS	K562	blood
11	chr1:75936000-75937200	Enhancers	Fetal Heart	heart
12	chr1:75936800-75937200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:75936800-75937800	Enhancers	K562	blood
14	chr1:75937800-75938200	Flanking Active TSS	K562	blood
15	chr1:75938000-75941000	Enhancers	HUVEC	blood vessel
16	chr1:75938200-75938400	Enhancers	K562	blood
17	chr1:75938200-75939000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:75938400-75939200	Flanking Active TSS	K562	blood
19	chr1:75939200-75939400	Enhancers	K562	blood
20	chr1:75939400-75941000	Weak transcription	K562	blood

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