Variant report

Variant	nsv522619
Chromosome Location	chr1:97440897-97447183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:97439287..97441134-chr1:97444393..97446623,2	MCF-7	breast:
2	chr1:97439197..97440916-chr1:97447494..97449190,2	MCF-7	breast:
3	chr1:97439287..97441134-chr1:97444393..97446623,2	MCF-7	breast:

Extended variants
information (count: 269 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12087881	chr1:97440897-97440898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566000606	chr1:97440926-97440927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528233924	chr1:97440928-97440929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189346826	chr1:97440943-97440944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568060573	chr1:97440950-97440951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74945124	chr1:97441001-97441002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181915281	chr1:97441032-97441033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371738888	chr1:97441038-97441039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376439356	chr1:97441041-97441042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553202709	chr1:97441055-97441056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186091243	chr1:97441071-97441072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188949488	chr1:97441153-97441154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150080377	chr1:97441172-97441173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559452836	chr1:97441173-97441174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573063695	chr1:97441178-97441179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542074290	chr1:97441199-97441200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199873082	chr1:97441251-97441252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569988143	chr1:97441269-97441270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544726092	chr1:97441285-97441286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181546278	chr1:97441391-97441392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114041764	chr1:97441393-97441394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138645183	chr1:97441461-97441462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559678186	chr1:97441472-97441473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528433543	chr1:97441475-97441476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548059737	chr1:97441477-97441478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568282972	chr1:97441502-97441503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530635882	chr1:97441537-97441538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186717512	chr1:97441576-97441577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570218518	chr1:97441604-97441605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561689328	chr1:97441627-97441628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552589122	chr1:97441630-97441631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567046821	chr1:97441652-97441653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536173118	chr1:97441667-97441668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149313026	chr1:97441674-97441675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11165748	chr1:97441732-97441733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538461257	chr1:97441799-97441800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191105741	chr1:97441804-97441805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144596983	chr1:97441839-97441840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578174542	chr1:97441850-97441851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549689496	chr1:97441857-97441858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114232439	chr1:97441878-97441879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573039075	chr1:97441890-97441891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182955477	chr1:97441927-97441928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561858488	chr1:97441947-97441948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565936244	chr1:97441960-97441961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530686625	chr1:97441974-97441975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1489807	chr1:97441975-97441976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186033817	chr1:97442007-97442008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564164157	chr1:97442021-97442022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139710437	chr1:97442069-97442070	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97439400-97444600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:97439600-97444200	Weak transcription	Fetal Stomach	stomach
3	chr1:97439800-97451800	Weak transcription	Fetal Heart	heart
4	chr1:97443800-97445200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:97444000-97444800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr1:97444000-97445400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:97444200-97444600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:97444200-97444800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:97444200-97444800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:97444200-97446000	Enhancers	Fetal Stomach	stomach
11	chr1:97444200-97446600	Enhancers	Fetal Lung	lung
12	chr1:97444400-97447000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:97444600-97445400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:97444600-97445600	Enhancers	Fetal Muscle Leg	muscle
15	chr1:97444600-97446600	Enhancers	Fetal Brain Female	brain
16	chr1:97444600-97447000	Enhancers	Brain Germinal Matrix	brain
17	chr1:97444800-97446600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:97445400-97446000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:97445400-97446400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:97445400-97450600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:97445600-97447600	Enhancers	HUVEC	blood vessel
22	chr1:97445800-97447200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:97446600-97448200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links