Variant report

Variant	nsv523600
Chromosome Location	chr1:104740005-104780767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 494 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:494 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569766580	chr1:104760000-104760001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537058512	chr1:104760020-104760021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs555698261	chr1:104760022-104760023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574665386	chr1:104760023-104760024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs542135845	chr1:104760055-104760056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs554093158	chr1:104760057-104760058	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572312563	chr1:104760061-104760062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs546019746	chr1:104760065-104760066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs571457679	chr1:104760066-104760067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531398952	chr1:104760069-104760070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs111246337	chr1:104760090-104760091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144445796	chr1:104760102-104760103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528865389	chr1:104760103-104760104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs548107285	chr1:104760126-104760127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs188111172	chr1:104760127-104760128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs533351057	chr1:104760130-104760131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs557401262	chr1:104760131-104760132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112044537	chr1:104760145-104760146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs537524836	chr1:104760167-104760168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145555739	chr1:104760185-104760186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs369867468	chr1:104760196-104760197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567686311	chr1:104760220-104760221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs191260056	chr1:104760243-104760244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs554156638	chr1:104760248-104760249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111772214	chr1:104760253-104760254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539655846	chr1:104760270-104760271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs557953058	chr1:104760271-104760272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370137868	chr1:104760288-104760289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs576081837	chr1:104760289-104760290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs182171302	chr1:104760293-104760294	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs374693980	chr1:104760294-104760295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186718182	chr1:104760331-104760332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149034903	chr1:104760336-104760337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540575309	chr1:104760358-104760359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs559628133	chr1:104760365-104760366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533411023	chr1:104760390-104760391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551580056	chr1:104760391-104760392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563568379	chr1:104760394-104760395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs530996080	chr1:104760403-104760404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6661610	chr1:104760412-104760413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567652453	chr1:104760413-104760414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386634118	chr1:104760414-104760415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372590927	chr1:104760417-104760418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184883916	chr1:104760421-104760422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188077378	chr1:104760429-104760430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558066041	chr1:104760435-104760436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193018460	chr1:104760440-104760441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536848796	chr1:104760449-104760450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555442477	chr1:104760484-104760485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369613579	chr1:104760517-104760518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104760000-104760400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:104760400-104760600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:104770000-104770200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:104770400-104771800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:104771800-104772800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:104772600-104775600	Enhancers	Fetal Heart	heart
7	chr1:104775600-104790200	Weak transcription	Fetal Heart	heart
8	chr1:104777000-104777600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:104777000-104778400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:104777600-104777800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:104777600-104778400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:104777800-104778200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:104777800-104778400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:104777800-104778600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:104778200-104778600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:104778400-104779600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:104778400-104781600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:104778400-104781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:104778600-104779600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:104779600-104780600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:104780600-104781000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:104780600-104781400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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