Variant report

Variant	nsv946002
Chromosome Location	chr1:77594830-77599905
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	chr1:77579749..77582722-chr1:77596983..77598740,2	K562	blood:
2	chr1:77598635..77600352-chr1:77601887..77604613,2	K562	blood:

Extended variants
information (count: 195 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543777139	chr1:77594964-77594965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552139934	chr1:77594979-77594980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569544095	chr1:77594998-77594999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537098713	chr1:77595009-77595010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555074095	chr1:77595013-77595014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370921405	chr1:77595042-77595043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567311703	chr1:77595046-77595047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534432610	chr1:77595056-77595057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557287939	chr1:77595092-77595093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149683759	chr1:77595155-77595156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546237493	chr1:77595174-77595175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552718593	chr1:77595177-77595178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559462053	chr1:77595178-77595179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201829238	chr1:77595180-77595181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577441128	chr1:77595224-77595225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544886624	chr1:77595225-77595226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556876720	chr1:77595251-77595252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139377267	chr1:77595290-77595291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543752031	chr1:77595302-77595303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561955371	chr1:77595312-77595313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529362143	chr1:77595336-77595337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541567233	chr1:77595374-77595375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112104772	chr1:77595390-77595391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559971238	chr1:77595391-77595392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201214608	chr1:77595400-77595401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200629887	chr1:77595403-77595404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201001602	chr1:77595405-77595406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367871108	chr1:77595406-77595407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202184562	chr1:77595407-77595408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533609994	chr1:77595489-77595490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542867953	chr1:77595571-77595572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370228288	chr1:77595576-77595577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183831559	chr1:77595608-77595609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186745868	chr1:77595705-77595706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6684222	chr1:77595727-77595728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531122258	chr1:77595743-77595744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548926393	chr1:77595744-77595745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567168800	chr1:77595780-77595781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191643853	chr1:77595788-77595789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552681869	chr1:77595797-77595798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182714593	chr1:77595817-77595818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528591757	chr1:77595821-77595822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556880136	chr1:77595841-77595842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67252426	chr1:77595874-77595875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74543969	chr1:77595875-77595876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76517948	chr1:77595876-77595877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11453801	chr1:77595890-77595891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201529397	chr1:77595893-77595894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74766877	chr1:77595906-77595907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542578856	chr1:77595915-77595916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77556000-77614400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:77568600-77595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:77570800-77596800	Weak transcription	Left Ventricle	heart
4	chr1:77574400-77613800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:77575000-77604000	Weak transcription	Primary B cells from cord blood	blood
6	chr1:77578600-77607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:77579800-77614200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:77581800-77599200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:77582400-77596400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:77583000-77598400	Weak transcription	Ovary	ovary
11	chr1:77585600-77619400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:77586400-77620600	Weak transcription	Primary T cells from cord blood	blood
13	chr1:77591200-77601000	Weak transcription	Psoas Muscle	Psoas
14	chr1:77592200-77623600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr1:77592400-77604800	Weak transcription	Aorta	Aorta
16	chr1:77595400-77640400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:77596400-77597200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:77597200-77624200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:77599200-77600200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:77599200-77600600	Enhancers	Liver	Liver
21	chr1:77599400-77599600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:77599600-77600400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:77599800-77600600	Enhancers	NHDF-Ad	bronchial

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