Variant report

Variant	nsv972221
Chromosome Location	chr8:113602976-113614329
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	chr8:112878252..112879995-chr8:113601916..113604196,2	MCF-7	breast:

Extended variants
information (count: 412 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34932836	chr8:113603001-113603002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4489347	chr8:113603067-113603068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186352718	chr8:113603073-113603074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548560023	chr8:113603091-113603092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142729901	chr8:113603108-113603109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533905855	chr8:113603141-113603142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553765310	chr8:113603165-113603166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576859873	chr8:113603169-113603170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189970737	chr8:113603205-113603206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556664286	chr8:113603215-113603216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576145035	chr8:113603230-113603231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542014897	chr8:113603235-113603236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561916302	chr8:113603256-113603257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572389682	chr8:113603324-113603325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549735145	chr8:113603411-113603412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113489632	chr8:113603418-113603419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7462424	chr8:113603419-113603420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs193192807	chr8:113603524-113603525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115076097	chr8:113603558-113603559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549604374	chr8:113603604-113603605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563406699	chr8:113603688-113603689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531765459	chr8:113603713-113603714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548397114	chr8:113603729-113603730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567928485	chr8:113603768-113603769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527962549	chr8:113603780-113603781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180813367	chr8:113603781-113603782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570509042	chr8:113603792-113603793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs137877611	chr8:113603800-113603801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556339852	chr8:113603847-113603848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539886375	chr8:113603857-113603858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553113532	chr8:113603921-113603922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36067046	chr8:113603943-113603944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186740116	chr8:113603965-113603966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534928937	chr8:113603972-113603973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191182498	chr8:113603999-113604000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368758360	chr8:113604015-113604016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541332186	chr8:113604021-113604022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547125600	chr8:113604056-113604057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558127434	chr8:113604064-113604065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4486235	chr8:113604094-113604095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111641710	chr8:113604095-113604096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543408816	chr8:113604127-113604128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144126976	chr8:113604156-113604157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187426057	chr8:113604168-113604169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542346928	chr8:113604183-113604184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375679716	chr8:113604196-113604197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561923987	chr8:113604250-113604251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527927311	chr8:113604251-113604252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562619701	chr8:113604315-113604316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571131258	chr8:113604428-113604429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113594600-113623800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links