Variant report

Variant	nsv546479
Chromosome Location	chr1:72509490-72555807
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	chr1:72511431..72513999-chr1:72515087..72517593,2	K562	blood:
2	chr1:72511431..72513999-chr1:72515087..72517593,2	K562	blood:

Extended variants
information (count: 960 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1486087	chr1:72509490-72509491	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs543431940	chr1:72509531-72509532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184819861	chr1:72509564-72509565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189275259	chr1:72509643-72509644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2821278	chr1:72509683-72509684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558483105	chr1:72509721-72509722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114853795	chr1:72509729-72509730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34122915	chr1:72509742-72509743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555039601	chr1:72509743-72509744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574582178	chr1:72509834-72509835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181010236	chr1:72509915-72509916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556998805	chr1:72509931-72509932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577171999	chr1:72509986-72509987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534733009	chr1:72510014-72510015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74562988	chr1:72510027-72510028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545821352	chr1:72510140-72510141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557564697	chr1:72510241-72510242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143746116	chr1:72510248-72510249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185084123	chr1:72510252-72510253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2821277	chr1:72510281-72510282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559542776	chr1:72510308-72510309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530258729	chr1:72510323-72510324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550320861	chr1:72510339-72510340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529801284	chr1:72510365-72510366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541974708	chr1:72510376-72510377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1486086	chr1:72510517-72510518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189550923	chr1:72510526-72510527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552450059	chr1:72510535-72510536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181337380	chr1:72510572-72510573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375507535	chr1:72510594-72510595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530485706	chr1:72510595-72510596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554796279	chr1:72510605-72510606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568515273	chr1:72510658-72510659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552161860	chr1:72510804-72510805	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571799822	chr1:72510828-72510829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186413221	chr1:72510904-72510905	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147182127	chr1:72510920-72510921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567281060	chr1:72510939-72510940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577211630	chr1:72510960-72510961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546163905	chr1:72511037-72511038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368357491	chr1:72511112-72511113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191712431	chr1:72511139-72511140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371978038	chr1:72511154-72511155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547665778	chr1:72511169-72511170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572909456	chr1:72511177-72511178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76605714	chr1:72511180-72511181	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561651045	chr1:72511225-72511226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139572376	chr1:72511236-72511237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374281287	chr1:72511263-72511264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543657632	chr1:72511317-72511318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cancer	21272361	CNVD
Obesity	21131291	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72500600-72512600	Weak transcription	Pancreas	Pancrea
2	chr1:72508800-72510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72510800-72511200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:72512200-72512800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:72512600-72513200	Enhancers	Colon Smooth Muscle	Colon
6	chr1:72512800-72513000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:72513000-72513200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:72513200-72513800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:72513200-72518400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:72513800-72514400	Enhancers	Colon Smooth Muscle	Colon
11	chr1:72514400-72519800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:72516000-72517400	Enhancers	HUVEC	blood vessel
13	chr1:72516200-72516600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:72516600-72517400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:72516800-72517400	Enhancers	HSMM	muscle
16	chr1:72517200-72517600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:72517200-72517600	Enhancers	NH-A	brain
18	chr1:72517200-72517600	Enhancers	Osteobl	bone
19	chr1:72517400-72517800	Enhancers	HSMMtube	muscle
20	chr1:72519800-72520000	Enhancers	Colon Smooth Muscle	Colon
21	chr1:72520000-72520800	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:72521000-72521400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:72524600-72525000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:72524800-72525200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:72524800-72525400	Enhancers	NHEK	skin
26	chr1:72525000-72526000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:72525200-72527600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:72525400-72527800	Weak transcription	NHEK	skin
29	chr1:72526000-72526400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:72526000-72526400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr1:72526000-72526800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:72526200-72526800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr1:72526400-72526800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:72526400-72526800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:72526400-72526800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:72526400-72527400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:72526800-72527000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:72526800-72527800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:72526800-72528000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:72526800-72528200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:72526800-72532400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:72527000-72527800	Enhancers	Brain Substantia Nigra	brain
43	chr1:72527000-72528200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:72527400-72528200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:72527600-72528000	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:72527600-72528200	Enhancers	HMEC	breast
47	chr1:72527600-72528400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:72527600-72528600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:72527600-72529800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:72527600-72530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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