Variant report

Variant	nsv546581
Chromosome Location	chr1:75897055-75937429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75891109..75893224-chr1:75895792..75897457,2	K562	blood:
2	chr1:75900200..75901997-chr1:75902779..75905400,2	K562	blood:
3	chr1:75933652..75935311-chr1:76250222..76252176,2	K562	blood:
4	chr1:75900200..75901997-chr1:75902779..75905400,2	K562	blood:
5	chr1:75934636..75936669-chr1:76193127..76195034,2	K562	blood:
6	chr1:75913816..75916653-chr1:75939102..75941877,2	K562	blood:

Variant related genes	Relation type
ENSG00000137955	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3845363	chr1:75897055-75897056	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75518483	chr1:75897112-75897113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541589064	chr1:75897145-75897146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376152516	chr1:75897153-75897154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370793291	chr1:75897233-75897234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578188937	chr1:75897241-75897242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545424280	chr1:75897286-75897287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374443678	chr1:75897292-75897293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565555083	chr1:75897293-75897294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530774385	chr1:75897311-75897312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530322343	chr1:75897327-75897328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527712628	chr1:75897403-75897404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548987325	chr1:75897428-75897429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563378857	chr1:75897435-75897436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528613626	chr1:75897464-75897465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547562324	chr1:75897624-75897625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369640209	chr1:75897629-75897630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539621112	chr1:75897632-75897633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551343362	chr1:75897637-75897638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569979060	chr1:75897641-75897642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181715839	chr1:75897665-75897666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537018582	chr1:75897692-75897693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548962457	chr1:75897699-75897700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555432890	chr1:75897731-75897732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573767387	chr1:75897733-75897734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534462361	chr1:75897809-75897810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35080314	chr1:75897813-75897814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553529547	chr1:75897823-75897824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185837154	chr1:75897839-75897840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377501451	chr1:75897882-75897883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150959215	chr1:75897918-75897919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550488787	chr1:75897932-75897933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191226654	chr1:75897938-75897939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139267744	chr1:75901410-75901411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574977095	chr1:75901470-75901471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376819697	chr1:75901523-75901524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535992210	chr1:75901549-75901550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190136014	chr1:75901551-75901552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572951527	chr1:75901582-75901583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74089245	chr1:75901600-75901601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs542972108	chr1:75901628-75901629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564808522	chr1:75901664-75901665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374668411	chr1:75901706-75901707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181332400	chr1:75901757-75901758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562187072	chr1:75901792-75901793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529739826	chr1:75901793-75901794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548222860	chr1:75901872-75901873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370819192	chr1:75901875-75901876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377344574	chr1:75901887-75901888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115224064	chr1:75901923-75901924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75895800-75898000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:75901400-75904200	Weak transcription	K562	blood
3	chr1:75903800-75904400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:75903800-75904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:75904200-75904400	Enhancers	K562	blood
6	chr1:75904400-75906000	Weak transcription	K562	blood
7	chr1:75906000-75906400	Enhancers	K562	blood
8	chr1:75914800-75915000	Enhancers	K562	blood
9	chr1:75915000-75915800	Weak transcription	K562	blood
10	chr1:75915800-75916200	Enhancers	K562	blood
11	chr1:75915800-75916400	Weak transcription	Pancreas	Pancrea
12	chr1:75916400-75916600	Enhancers	Pancreas	Pancrea
13	chr1:75916400-75916800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:75934800-75935000	Enhancers	K562	blood
15	chr1:75935000-75935400	Flanking Active TSS	K562	blood
16	chr1:75935400-75935800	Enhancers	K562	blood
17	chr1:75935800-75936800	Flanking Active TSS	K562	blood
18	chr1:75936000-75937200	Enhancers	Fetal Heart	heart
19	chr1:75936800-75937200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:75936800-75937800	Enhancers	K562	blood

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