Variant report

Variant	nsv1310
Chromosome Location	chr1:69753536-69798633
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1002 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565090993	chr1:69753543-69753544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139516532	chr1:69753571-69753572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558779033	chr1:69753573-69753574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114777583	chr1:69753586-69753587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376939236	chr1:69753596-69753597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541193485	chr1:69753676-69753677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541296612	chr1:69753695-69753696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554766360	chr1:69753704-69753705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574852616	chr1:69753767-69753768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543586415	chr1:69753831-69753832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563691476	chr1:69753834-69753835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577214443	chr1:69753835-69753836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144179609	chr1:69753852-69753853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2612241	chr1:69753856-69753857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184547959	chr1:69753893-69753894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187809170	chr1:69753935-69753936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560962293	chr1:69753997-69753998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191162448	chr1:69754036-69754037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12129407	chr1:69754083-69754084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184580405	chr1:69754084-69754085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538210006	chr1:69754104-69754105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111828440	chr1:69754159-69754160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566006213	chr1:69754174-69754175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535012293	chr1:69754246-69754247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554725650	chr1:69754247-69754248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565855789	chr1:69754256-69754257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574972028	chr1:69754275-69754276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537547304	chr1:69754277-69754278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576517331	chr1:69754302-69754303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189497781	chr1:69754342-69754343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115388337	chr1:69754368-69754369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546184299	chr1:69754378-69754379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148755637	chr1:69754380-69754381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559805699	chr1:69754515-69754516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142330623	chr1:69754577-69754578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115397556	chr1:69754604-69754605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs151304773	chr1:69754613-69754614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563624926	chr1:69754621-69754622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140537532	chr1:69754680-69754681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532928671	chr1:69754683-69754684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377647663	chr1:69754696-69754697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370847868	chr1:69754720-69754721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375621790	chr1:69754784-69754785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76840991	chr1:69754791-69754792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563205759	chr1:69754857-69754858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532100299	chr1:69754893-69754894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200344039	chr1:69754989-69754990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192997935	chr1:69755049-69755050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79408787	chr1:69755083-69755084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565370161	chr1:69755135-69755136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69752600-69755800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:69754200-69754400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:69754600-69759600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:69755800-69756600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:69756000-69756400	Enhancers	Adipose Nuclei	Adipose
6	chr1:69756400-69757200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:69756600-69757600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:69756800-69757400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:69756800-69757400	Enhancers	Brain Germinal Matrix	brain
10	chr1:69756800-69757600	Enhancers	Fetal Brain Female	brain
11	chr1:69757000-69757400	Enhancers	Brain Anterior Caudate	brain
12	chr1:69757000-69757600	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:69757000-69757600	Enhancers	Brain Hippocampus Middle	brain
14	chr1:69757400-69758000	Enhancers	Fetal Brain Male	brain
15	chr1:69757600-69758600	Weak transcription	Fetal Brain Female	brain
16	chr1:69758000-69759200	Weak transcription	Fetal Brain Male	brain
17	chr1:69758600-69758800	Enhancers	Fetal Brain Female	brain
18	chr1:69758800-69759200	Weak transcription	Fetal Brain Female	brain
19	chr1:69759200-69759600	Enhancers	Fetal Brain Female	brain
20	chr1:69759400-69759600	Enhancers	Fetal Brain Male	brain
21	chr1:69759400-69760000	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:69759600-69760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:69759600-69760200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:69760000-69760400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:69760400-69760800	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:69760600-69761200	Enhancers	Liver	Liver
27	chr1:69771600-69772000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:69771600-69772000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:69771600-69772000	Enhancers	Placenta	Placenta
30	chr1:69775400-69777400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:69777200-69777600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:69777400-69777600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:69777400-69778000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:69777400-69778400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:69777600-69777800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:69777600-69777800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:69777600-69777800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:69777600-69778000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:69777600-69778200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:69777600-69778200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:69777600-69778200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:69777800-69778000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:69777800-69778000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr1:69777800-69778000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:69777800-69778000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:69777800-69778000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr1:69777800-69778200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:69777800-69778200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr1:69777800-69778200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:69777800-69778400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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