Variant report

Variant	nsv10372
Chromosome Location	chr1:95157198-95159040
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	chr1:95158375..95159264-chr1:95267288..95268011,2	MCF-7	breast:
2	chr1:95147936..95149911-chr1:95157813..95160581,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10874882	chr1:95157250-95157251	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560995381	chr1:95157290-95157291	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529991899	chr1:95157332-95157333	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549872490	chr1:95157339-95157340	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs71588523	chr1:95157376-95157377	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1689173	chr1:95157377-95157378	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532619209	chr1:95157387-95157388	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10782991	chr1:95157395-95157396	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566131435	chr1:95157405-95157406	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80308132	chr1:95157414-95157415	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374522698	chr1:95157415-95157416	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113229124	chr1:95157419-95157420	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147617457	chr1:95157455-95157456	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368907081	chr1:95157460-95157461	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567279714	chr1:95157477-95157478	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536217814	chr1:95157508-95157509	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193097271	chr1:95157509-95157510	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371304377	chr1:95157597-95157598	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576112920	chr1:95157666-95157667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141614859	chr1:95157711-95157712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558759585	chr1:95157722-95157723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10874883	chr1:95157739-95157740	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs535228393	chr1:95157772-95157773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540932157	chr1:95157815-95157816	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367877453	chr1:95157833-95157834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185109572	chr1:95157846-95157847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187644992	chr1:95157847-95157848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563513213	chr1:95157852-95157853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532680001	chr1:95157881-95157882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147067835	chr1:95157893-95157894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2040077	chr1:95157900-95157901	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115648366	chr1:95157939-95157940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191764719	chr1:95157997-95157998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138233929	chr1:95158024-95158025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10874884	chr1:95158042-95158043	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs549779462	chr1:95158054-95158055	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577656572	chr1:95158055-95158056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149558111	chr1:95158084-95158085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs77523582	chr1:95158117-95158118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs558324491	chr1:95158119-95158120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560715496	chr1:95158129-95158130	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs571921041	chr1:95158135-95158136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs143258126	chr1:95158146-95158147	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs2040076	chr1:95158158-95158159	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148375378	chr1:95158177-95158178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543297303	chr1:95158196-95158197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs11463413	chr1:95158219-95158220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202060292	chr1:95158223-95158224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377713084	chr1:95158226-95158227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2040075	chr1:95158284-95158285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Acute lymphoblastic leukemia	20435627	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
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95126800-95164200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:95142800-95167800	Weak transcription	Pancreas	Pancrea
3	chr1:95145200-95157200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:95145200-95163600	Weak transcription	Stomach Mucosa	stomach
5	chr1:95151200-95160600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:95151400-95165800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:95153000-95157600	Weak transcription	Right Atrium	heart
9	chr1:95153000-95173000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:95153400-95167600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:95154000-95157600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:95154200-95157200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:95154400-95157200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:95155000-95160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:95155000-95163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:95155800-95173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:95156000-95159200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:95156200-95163200	Weak transcription	NHLF	lung
19	chr1:95156800-95158200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:95157000-95157400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:95157000-95157800	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr1:95157200-95157400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr1:95157200-95158000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr1:95157200-95158000	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr1:95157400-95160600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:95157800-95158600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:95158000-95163200	Weak transcription	Fetal Intestine Large	intestine
28	chr1:95158000-95163400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:95158200-95158800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:95158600-95158800	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr1:95158800-95159000	Strong transcription	Fetal Intestine Small	intestine
32	chr1:95158800-95159200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:95159000-95159800	Weak transcription	Fetal Intestine Small	intestine

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