Variant report

Variant	nsv546600
Chromosome Location	chr1:78649862-78666990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 354 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573531584	chr1:78656203-78656204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370271540	chr1:78656229-78656230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185702693	chr1:78656257-78656258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375381485	chr1:78656292-78656293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs367928395	chr1:78656294-78656295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs634741	chr1:78656299-78656300	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs115202199	chr1:78656300-78656301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563452441	chr1:78656320-78656321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs368656982	chr1:78656341-78656342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190515978	chr1:78656384-78656385	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550263115	chr1:78656460-78656461	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs67541576	chr1:78656516-78656517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568488954	chr1:78656528-78656529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs653899	chr1:78656695-78656696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548075716	chr1:78656714-78656715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs632675	chr1:78656734-78656735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566283793	chr1:78656747-78656748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145039110	chr1:78656792-78656793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77805121	chr1:78656818-78656819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551595033	chr1:78656820-78656821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146927271	chr1:78656838-78656839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528568100	chr1:78656862-78656863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201944496	chr1:78656896-78656897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374507530	chr1:78656922-78656923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569881696	chr1:78656929-78656930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536773948	chr1:78656981-78656982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564208492	chr1:78656986-78656987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571139039	chr1:78657032-78657033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34186019	chr1:78657046-78657047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369798786	chr1:78657060-78657061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12119550	chr1:78657086-78657087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12406044	chr1:78657090-78657091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534361402	chr1:78657091-78657092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552932396	chr1:78657103-78657104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530888197	chr1:78657174-78657175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577888791	chr1:78657201-78657202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545306606	chr1:78657216-78657217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560526274	chr1:78657222-78657223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563487745	chr1:78657228-78657229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575482064	chr1:78657295-78657296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543936486	chr1:78657319-78657320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561997776	chr1:78657328-78657329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529315044	chr1:78657375-78657376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs619749	chr1:78657395-78657396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569603830	chr1:78657450-78657451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531906831	chr1:78657498-78657499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559675709	chr1:78657546-78657547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533475156	chr1:78657559-78657560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114040979	chr1:78657576-78657577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4650584	chr1:78657591-78657592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78656200-78656600	ZNF genes & repeats	Liver	Liver
2	chr1:78656600-78668800	Weak transcription	Liver	Liver
3	chr1:78657600-78667200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:78657600-78669600	Weak transcription	Pancreas	Pancrea
5	chr1:78658800-78660200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:78659200-78659400	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr1:78659400-78668000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:78661000-78661800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:78661400-78661600	Enhancers	Small Intestine	intestine
10	chr1:78661400-78661800	Enhancers	NHDF-Ad	bronchial
11	chr1:78662600-78663800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:78664800-78665000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:78665400-78666600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:78666200-78667400	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:78666400-78667400	Enhancers	Colon Smooth Muscle	Colon
16	chr1:78666400-78667800	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:78666400-78668200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:78666600-78667000	Enhancers	Fetal Stomach	stomach
19	chr1:78666600-78667400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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