Variant report

Variant	nsv967541
Chromosome Location	chr8:113639851-113640743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184592851	chr8:113639876-113639877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138958186	chr8:113639891-113639892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76767968	chr8:113639895-113639896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543323956	chr8:113639931-113639932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562898895	chr8:113639932-113639933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528880561	chr8:113639934-113639935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563159088	chr8:113639952-113639953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548602157	chr8:113639997-113639998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565743912	chr8:113640078-113640079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372554765	chr8:113640105-113640106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547958823	chr8:113640115-113640116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189355757	chr8:113640133-113640134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540092013	chr8:113640140-113640141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556916600	chr8:113640148-113640149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76577831	chr8:113640157-113640158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535835969	chr8:113640162-113640163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531917494	chr8:113640212-113640213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551598569	chr8:113640213-113640214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555826659	chr8:113640219-113640220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192565889	chr8:113640302-113640303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572499847	chr8:113640346-113640347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184375681	chr8:113640352-113640353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557896881	chr8:113640359-113640360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577768496	chr8:113640360-113640361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34163708	chr8:113640448-113640449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571629410	chr8:113640460-113640461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543287048	chr8:113640484-113640485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563259291	chr8:113640550-113640551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573624220	chr8:113640565-113640566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12545404	chr8:113640581-113640582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201985288	chr8:113640587-113640588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189078070	chr8:113640602-113640603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555522183	chr8:113640616-113640617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370474760	chr8:113640665-113640666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528145082	chr8:113640721-113640722	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113629200-113680600	Weak transcription	NHEK	skin
2	chr8:113629400-113661800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:113636200-113663600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:113636800-113680400	Weak transcription	HMEC	breast
5	chr8:113639600-113640000	Enhancers	Fetal Lung	lung
6	chr8:113640000-113644200	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links