Variant report

Variant	nsv1001099
Chromosome Location	chr1:71998264-72022230
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	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
2	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:

Extended variants
information (count: 219 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78174581	chr1:71998319-71998320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144993912	chr1:71998350-71998351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550152746	chr1:71998402-71998403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148289445	chr1:71998450-71998451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538930623	chr1:71998453-71998454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533375991	chr1:71998506-71998507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141480050	chr1:71998518-71998519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533742174	chr1:71998527-71998528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61764982	chr1:71998612-71998613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188943479	chr1:71998644-71998645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192545754	chr1:71998646-71998647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567499044	chr1:71998657-71998658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12064006	chr1:71998726-71998727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574141705	chr1:71998740-71998741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138290825	chr1:71998770-71998771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143982928	chr1:71998789-71998790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577080168	chr1:71998848-71998849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545749515	chr1:71998886-71998887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559534925	chr1:71999026-71999027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572944584	chr1:71999130-71999131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141030751	chr1:71999146-71999147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561374638	chr1:71999183-71999184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535725967	chr1:71999190-71999191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529844443	chr1:71999223-71999224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557268885	chr1:71999252-71999253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563645881	chr1:71999322-71999323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183214909	chr1:71999466-71999467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34066591	chr1:71999470-71999471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17569091	chr1:71999478-71999479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546351354	chr1:71999501-71999502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186875422	chr1:71999512-71999513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78998019	chr1:71999520-71999521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565855165	chr1:71999571-71999572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567821775	chr1:71999595-71999596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536712743	chr1:71999635-71999636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556558842	chr1:71999652-71999653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570338870	chr1:71999664-71999665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539763723	chr1:71999665-71999666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568853200	chr1:71999721-71999722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191286994	chr1:71999749-71999750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376318478	chr1:71999752-71999753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542056327	chr1:71999756-71999757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184901111	chr1:71999848-71999849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546103786	chr1:71999857-71999858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs28386813	chr1:71999877-71999878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189750555	chr1:71999913-71999914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12129849	chr1:71999921-71999922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573245766	chr1:71999975-71999976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540765934	chr1:72000016-72000017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563734720	chr1:72000020-72000021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
small cell lung cancer	20016488	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
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71998200-72002000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:71999000-72000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:71999800-72000200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:72000800-72001000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:72002000-72002200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:72003800-72004400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:72013200-72013800	Enhancers	Fetal Brain Male	brain
8	chr1:72018800-72019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:72018800-72019400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:72019400-72020400	Weak transcription	Muscle Satellite Cultured Cells	--

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