Variant report

Variant	nsv972245
Chromosome Location	chr8:113707426-113718277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542236854	chr8:113714803-113714804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192556592	chr8:113714820-113714821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529399408	chr8:113714853-113714854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541948042	chr8:113714855-113714856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561463236	chr8:113714871-113714872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139346880	chr8:113714889-113714890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530358086	chr8:113714894-113714895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72678464	chr8:113714962-113714963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368956227	chr8:113714979-113714980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184364519	chr8:113715047-113715048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371511154	chr8:113715056-113715057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117163416	chr8:113715058-113715059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144370564	chr8:113715071-113715072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543986513	chr8:113715169-113715170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4876290	chr8:113715225-113715226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188641257	chr8:113715271-113715272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554686827	chr8:113715284-113715285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192979673	chr8:113715320-113715321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184815170	chr8:113715332-113715333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553956936	chr8:113715348-113715349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577029974	chr8:113715431-113715432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546087587	chr8:113715437-113715438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551353448	chr8:113715464-113715465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189686396	chr8:113715481-113715482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372430428	chr8:113715492-113715493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571527476	chr8:113715514-113715515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200043398	chr8:113715693-113715694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571526594	chr8:113715739-113715740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576152686	chr8:113715746-113715747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541935940	chr8:113715747-113715748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561798733	chr8:113715759-113715760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533889106	chr8:113715765-113715766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140185158	chr8:113715809-113715810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34493479	chr8:113715825-113715826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191168748	chr8:113715878-113715879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111780831	chr8:113715899-113715900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553341965	chr8:113715928-113715929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560750864	chr8:113715936-113715937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183667751	chr8:113715969-113715970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552881638	chr8:113715985-113715986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562535939	chr8:113716003-113716004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143114334	chr8:113716048-113716049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72678466	chr8:113716073-113716074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs16883975	chr8:113716113-113716114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534318228	chr8:113716147-113716148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373581387	chr8:113716161-113716162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189166183	chr8:113716194-113716195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4582593	chr8:113716200-113716201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376990014	chr8:113716202-113716203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6469435	chr8:113716218-113716219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113714800-113715200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:113714800-113715400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr8:113714800-113715600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:113714800-113715600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:113714800-113716200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:113714800-113716200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:113714800-113716400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:113715000-113716000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links