Variant report

Variant	nsv947272
Chromosome Location	chr1:72722438-72729635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 278 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:278 , 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	rs372383491	chr1:72722493-72722494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531717276	chr1:72722500-72722501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533047875	chr1:72722518-72722519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551773901	chr1:72722536-72722537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193259590	chr1:72722558-72722559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533999303	chr1:72722566-72722567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10493495	chr1:72722584-72722585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs576516157	chr1:72722612-72722613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150004033	chr1:72722618-72722619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535748084	chr1:72722628-72722629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs66571692	chr1:72722629-72722630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559617569	chr1:72722645-72722646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536588162	chr1:72722668-72722669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556021956	chr1:72722677-72722678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543730781	chr1:72722688-72722689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147282278	chr1:72722726-72722727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140681074	chr1:72722732-72722733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558095381	chr1:72722734-72722735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144642134	chr1:72722765-72722766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540721298	chr1:72722781-72722782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554386832	chr1:72722806-72722807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111367900	chr1:72722813-72722814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543371243	chr1:72722816-72722817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563197686	chr1:72722841-72722842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532011339	chr1:72722849-72722850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375746762	chr1:72722854-72722855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369005988	chr1:72722881-72722882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374966490	chr1:72722928-72722929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556867840	chr1:72722952-72722953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545430650	chr1:72722977-72722978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111515820	chr1:72722981-72722982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565087912	chr1:72722992-72722993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34220734	chr1:72723005-72723006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397863056	chr1:72723027-72723028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202106200	chr1:72723028-72723029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527831081	chr1:72723154-72723155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547562930	chr1:72723182-72723183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567484852	chr1:72723184-72723185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61765646	chr1:72723211-72723212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34670416	chr1:72723215-72723216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17591264	chr1:72723236-72723237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569629660	chr1:72723258-72723259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34936708	chr1:72723261-72723262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147944885	chr1:72723295-72723296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558526401	chr1:72723331-72723332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10157430	chr1:72723362-72723363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565532152	chr1:72723380-72723381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192962688	chr1:72723389-72723390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534751686	chr1:72723407-72723408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370922521	chr1:72723468-72723469	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72712200-72727400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:72713800-72735600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72716000-72726200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:72719400-72727400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:72726200-72726400	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:72726200-72726600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:72726600-72727600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:72727400-72727600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:72727400-72728000	Active TSS	Stomach Smooth Muscle	stomach
10	chr1:72727600-72728000	Active TSS	Colon Smooth Muscle	Colon
11	chr1:72727600-72728200	Enhancers	Rectal Smooth Muscle	rectum
12	chr1:72727800-72728000	Enhancers	Brain Substantia Nigra	brain
13	chr1:72728000-72728400	Enhancers	Colon Smooth Muscle	Colon
14	chr1:72728400-72738600	Weak transcription	Colon Smooth Muscle	Colon

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