Variant report

Variant	nsv462816
Chromosome Location	chr1:104318414-104454507
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:104307678..104310486-chr1:104333154..104335185,2	K562	blood:
2	chr1:104330809..104331725-chr1:104675161..104675727,2	MCF-7	breast:
3	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:
4	chr1:104330211..104331667-chr1:104674701..104675769,4	MCF-7	breast:
5	chr1:104320249..104323301-chr1:104334806..104337281,3	K562	blood:

Extended variants
information (count: 511 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7515323	chr1:104318414-104318415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184654713	chr1:104318447-104318448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150950902	chr1:104318456-104318457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548891879	chr1:104318458-104318459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189975720	chr1:104318467-104318468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192186218	chr1:104318471-104318472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139367832	chr1:104318480-104318481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570963177	chr1:104318518-104318519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538215937	chr1:104318519-104318520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556615292	chr1:104318532-104318533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574813550	chr1:104318626-104318627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536151183	chr1:104318655-104318656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554885785	chr1:104318661-104318662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146281118	chr1:104318699-104318700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572908751	chr1:104318704-104318705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540039135	chr1:104318708-104318709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558201525	chr1:104318712-104318713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146648550	chr1:104318714-104318715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56053759	chr1:104318716-104318717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141415037	chr1:104318718-104318719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540514289	chr1:104318744-104318745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373055639	chr1:104318758-104318759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61814743	chr1:104318830-104318831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542149570	chr1:104318873-104318874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560851034	chr1:104318919-104318920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs661736	chr1:104318923-104318924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs661719	chr1:104318933-104318934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111436446	chr1:104318943-104318944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189272302	chr1:104318952-104318953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532284927	chr1:104318985-104318986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531827781	chr1:104319025-104319026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115139562	chr1:104319057-104319058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568352305	chr1:104319058-104319059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569337517	chr1:104319090-104319091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535849775	chr1:104319127-104319128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554518875	chr1:104319136-104319137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566779601	chr1:104319180-104319181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181941775	chr1:104319218-104319219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148921540	chr1:104319227-104319228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576654912	chr1:104319228-104319229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185085494	chr1:104319252-104319253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143718294	chr1:104319354-104319355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189069600	chr1:104319366-104319367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181695327	chr1:104319387-104319388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186302430	chr1:104319412-104319413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528009511	chr1:104319454-104319455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550437	chr1:104319480-104319481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148102399	chr1:104319521-104319522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531979263	chr1:104319523-104319524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191488110	chr1:104319526-104319527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104317800-104322000	Weak transcription	Fetal Heart	heart
2	chr1:104326200-104327000	Enhancers	GM12878-XiMat	blood
3	chr1:104360000-104360400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:104360200-104360600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:104369800-104370200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:104369800-104370200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr1:104373200-104373600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:104377600-104378400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:104430400-104431200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:104430600-104431200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:104430800-104431200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:104438600-104439200	Enhancers	Fetal Heart	heart
13	chr1:104439200-104441400	Weak transcription	Fetal Heart	heart
14	chr1:104441400-104442000	Enhancers	Fetal Heart	heart
15	chr1:104442000-104442800	Weak transcription	Fetal Heart	heart
16	chr1:104442400-104443000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:104442800-104444200	Enhancers	Fetal Heart	heart
18	chr1:104443000-104444400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:104444200-104444600	Flanking Active TSS	Fetal Heart	heart
20	chr1:104444400-104444600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:104444600-104444800	Enhancers	Fetal Heart	heart
22	chr1:104444600-104445000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:104445000-104445400	Enhancers	Skeletal Muscle Female	skeletal muscle

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