Variant report

Variant	nsv947185
Chromosome Location	chr1:75939191-75952014
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	chr1:75939435..75941106-chr1:75956675..75959314,2	K562	blood:
2	chr1:75913816..75916653-chr1:75939102..75941877,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537380008	chr1:75939223-75939224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370422130	chr1:75939248-75939249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185132263	chr1:75939249-75939250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534282073	chr1:75939259-75939260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552655290	chr1:75939273-75939274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374533101	chr1:75939282-75939283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368791637	chr1:75939285-75939286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1936354	chr1:75939299-75939300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114751222	chr1:75939487-75939488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554366297	chr1:75939518-75939519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78637444	chr1:75939662-75939663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557564340	chr1:75939694-75939695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189884518	chr1:75939708-75939709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181094295	chr1:75939793-75939794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561530376	chr1:75939800-75939801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35690733	chr1:75939843-75939844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116292572	chr1:75939888-75939889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11804097	chr1:75939925-75939926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565270847	chr1:75939949-75939950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566621450	chr1:75940003-75940004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530900446	chr1:75940120-75940121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185403309	chr1:75940131-75940132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140377226	chr1:75940136-75940137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550970821	chr1:75940259-75940260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564381299	chr1:75940260-75940261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533468174	chr1:75940274-75940275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535028135	chr1:75940313-75940314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552120432	chr1:75940343-75940344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58831329	chr1:75940353-75940354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530588144	chr1:75940413-75940414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189978229	chr1:75940415-75940416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145545613	chr1:75940423-75940424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567179106	chr1:75940464-75940465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180782074	chr1:75940480-75940481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538266501	chr1:75940525-75940526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79565176	chr1:75940550-75940551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538752646	chr1:75940589-75940590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186585799	chr1:75940600-75940601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575810553	chr1:75940661-75940662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536800992	chr1:75940669-75940670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555304083	chr1:75940702-75940703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566762256	chr1:75940704-75940705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535731793	chr1:75940714-75940715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114920995	chr1:75940721-75940722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191934893	chr1:75940729-75940730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183702745	chr1:75940732-75940733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544707815	chr1:75940796-75940797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188177488	chr1:75940842-75940843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530738040	chr1:75940874-75940875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549293937	chr1:75940884-75940885	Enhancers 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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75938000-75941000	Enhancers	HUVEC	blood vessel
2	chr1:75938400-75939200	Flanking Active TSS	K562	blood
3	chr1:75939200-75939400	Enhancers	K562	blood
4	chr1:75939400-75941000	Weak transcription	K562	blood
5	chr1:75941000-75941800	Enhancers	K562	blood
6	chr1:75948200-75949200	Enhancers	HUVEC	blood vessel
7	chr1:75950200-75950600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:75950200-75950600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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