Variant report

Variant	nsv947498
Chromosome Location	chr1:97726115-97730467
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	chr1:97727419..97728945-chr1:97737603..97739264,2	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190046322	chr1:97726124-97726125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574367176	chr1:97726201-97726202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182465125	chr1:97726224-97726225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543062695	chr1:97726253-97726254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577514396	chr1:97726321-97726322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546390553	chr1:97726340-97726341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559899500	chr1:97726367-97726368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114595731	chr1:97726378-97726379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541938606	chr1:97726381-97726382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527537922	chr1:97726400-97726401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151242981	chr1:97726420-97726421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549675565	chr1:97726444-97726445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372305297	chr1:97726446-97726447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532199069	chr1:97726461-97726462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186792489	chr1:97726502-97726503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565523271	chr1:97726591-97726592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534761963	chr1:97726647-97726648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139433369	chr1:97726688-97726689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150058480	chr1:97726689-97726690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536595109	chr1:97726714-97726715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111760482	chr1:97726835-97726836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577577531	chr1:97726874-97726875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147721428	chr1:97726903-97726904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77503059	chr1:97726920-97726921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75809710	chr1:97726933-97726934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11584267	chr1:97726956-97726957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542351482	chr1:97726957-97726958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142487018	chr1:97726979-97726980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551522994	chr1:97726993-97726994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200585561	chr1:97727049-97727050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371426798	chr1:97727072-97727073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59568061	chr1:97727073-97727074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs693680	chr1:97727083-97727084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547878419	chr1:97727143-97727144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145892973	chr1:97727200-97727201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192611361	chr1:97727213-97727214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563257367	chr1:97727225-97727226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184002088	chr1:97727244-97727245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12749253	chr1:97727253-97727254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545688695	chr1:97727287-97727288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531047475	chr1:97727305-97727306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528231739	chr1:97727313-97727314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548269282	chr1:97727314-97727315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568032263	chr1:97727316-97727317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530542439	chr1:97727398-97727399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147788737	chr1:97727423-97727424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78688684	chr1:97727435-97727436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570438264	chr1:97727450-97727451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540184801	chr1:97727465-97727466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553696965	chr1:97727473-97727474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
Malignant melanoma	17260012	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20803296	CNVD
Colorectal cancer	20653680	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97699600-97729000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:97700600-97733000	Weak transcription	Dnd41	blood
3	chr1:97716800-97733000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:97718400-97736600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:97719200-97733800	Weak transcription	Liver	Liver
6	chr1:97719600-97733000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:97720600-97736600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:97720600-97772000	Weak transcription	Ovary	ovary
9	chr1:97724000-97736600	Weak transcription	Small Intestine	intestine
10	chr1:97724000-97773200	Weak transcription	Lung	lung
11	chr1:97724400-97726200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:97724400-97740200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:97726200-97726600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:97726600-97726800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:97726600-97733000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:97727200-97728400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:97728400-97729200	Enhancers	Fetal Heart	heart
18	chr1:97728400-97729400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:97730400-97769800	Weak transcription	Primary B cells from cord blood	blood

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