Variant report

Variant	nsv546569
Chromosome Location	chr1:73634013-73647909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 562 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12128855	chr1:73634013-73634014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186145601	chr1:73634053-73634054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112496605	chr1:73634092-73634093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566044669	chr1:73634110-73634111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528585295	chr1:73634111-73634112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541155956	chr1:73634113-73634114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6684331	chr1:73634128-73634129	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529665043	chr1:73634152-73634153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146825675	chr1:73634223-73634224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72028568	chr1:73634224-73634225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34859883	chr1:73634233-73634234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146389432	chr1:73634244-73634245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191868948	chr1:73634412-73634413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139432000	chr1:73634458-73634459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570382222	chr1:73634476-73634477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564557976	chr1:73634502-73634503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547738424	chr1:73634514-73634515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533603747	chr1:73634605-73634606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6699861	chr1:73634621-73634622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183953068	chr1:73634670-73634671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541892220	chr1:73634714-73634715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539331193	chr1:73634716-73634717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12136496	chr1:73634781-73634782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575331980	chr1:73634782-73634783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544192691	chr1:73634830-73634831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112544657	chr1:73634858-73634859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532794997	chr1:73634876-73634877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199636716	chr1:73634877-73634878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147438130	chr1:73634878-73634879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71955357	chr1:73634879-73634880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34092186	chr1:73634881-73634882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200658510	chr1:73634882-73634883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546128089	chr1:73634926-73634927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572697155	chr1:73634984-73634985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559889847	chr1:73635020-73635021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529512484	chr1:73635049-73635050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373617422	chr1:73635065-73635066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538838919	chr1:73635079-73635080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188902745	chr1:73635113-73635114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548643661	chr1:73635119-73635120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12122520	chr1:73635177-73635178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs10789357	chr1:73635188-73635189	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs150035646	chr1:73635254-73635255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570457622	chr1:73635261-73635262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190453556	chr1:73635277-73635278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546509834	chr1:73635281-73635282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7538384	chr1:73635284-73635285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566635801	chr1:73635298-73635299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12137388	chr1:73635313-73635314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555516830	chr1:73635322-73635323	Weak transcription Enhancers	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73628400-73641800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:73635000-73635200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:73635200-73636600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:73635400-73636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:73636000-73636200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:73636200-73642200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:73636600-73641600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:73641600-73643000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:73641800-73642000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:73641800-73642800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:73642000-73642400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:73642200-73642400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:73642200-73643000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:73642400-73642600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:73642400-73642800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:73642400-73642800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:73642400-73643000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:73642600-73651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:73642800-73653600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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