Variant report

Variant	nsv870504
Chromosome Location	chr1:102866726-102916348
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	chr1:102863880..102865440-chr1:102870522..102872481,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183926960	chr1:102885603-102885604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549980553	chr1:102885638-102885639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145194618	chr1:102885658-102885659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528483758	chr1:102885679-102885680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529800458	chr1:102885684-102885685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547978077	chr1:102885685-102885686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369346659	chr1:102885737-102885738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373940931	chr1:102885756-102885757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551602516	chr1:102885799-102885800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566503489	chr1:102885813-102885814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533537666	chr1:102885854-102885855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571470867	chr1:102885862-102885863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12045655	chr1:102885930-102885931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189241650	chr1:102885936-102885937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10782893	chr1:102885983-102885984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191052061	chr1:102900006-102900007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115285118	chr1:102900044-102900045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182399937	chr1:102900045-102900046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372738911	chr1:102900089-102900090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140625619	chr1:102900092-102900093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551758408	chr1:102900148-102900149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569945181	chr1:102900165-102900166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115471590	chr1:102900198-102900199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11164515	chr1:102900211-102900212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567885801	chr1:102900246-102900247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114971324	chr1:102900370-102900371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188430994	chr1:102900374-102900375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571506969	chr1:102900389-102900390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148701572	chr1:102900391-102900392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561824441	chr1:102901219-102901220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553169807	chr1:102901252-102901253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577744738	chr1:102901275-102901276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368877744	chr1:102901297-102901298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545509944	chr1:102901308-102901309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12747174	chr1:102901310-102901311	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6703795	chr1:102901312-102901313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146599029	chr1:102901341-102901342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561219906	chr1:102901386-102901387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528841061	chr1:102901392-102901393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369972329	chr1:102901410-102901411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565502892	chr1:102901414-102901415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532619389	chr1:102901417-102901418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551121916	chr1:102901440-102901441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562434812	chr1:102901491-102901492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569663083	chr1:102901543-102901544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536704154	chr1:102901583-102901584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554698306	chr1:102907804-102907805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs35026752	chr1:102907805-102907806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs533912604	chr1:102907812-102907813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559215518	chr1:102907822-102907823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102885600-102886000	Enhancers	Liver	Liver
2	chr1:102885600-102886000	Enhancers	HepG2	liver
3	chr1:102900000-102900400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:102901200-102901400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:102901200-102901600	Enhancers	GM12878-XiMat	blood
6	chr1:102901400-102901600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:102907800-102908400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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