Variant report

Variant	nsv1025551
Chromosome Location	chr6:117730592-117741495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117736654..117739264-chr6:117740567..117742292,2	K562	blood:
2	chr6:117738757..117741446-chr6:117744839..117746774,2	K562	blood:
3	chr6:117736654..117739264-chr6:117740567..117742292,2	K562	blood:
4	chr6:117732882..117736812-chr6:117738044..117741372,3	K562	blood:
5	chr6:117732882..117736812-chr6:117738044..117741372,3	K562	blood:

Extended variants
information (count: 454 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2273602	chr6:117730592-117730593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554667935	chr6:117730672-117730673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17634067	chr6:117730673-117730674	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs543357749	chr6:117730684-117730685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372632850	chr6:117730701-117730702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376674649	chr6:117730709-117730710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369090262	chr6:117730717-117730718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564722649	chr6:117730728-117730729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371847632	chr6:117730731-117730732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74492215	chr6:117730749-117730750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576811751	chr6:117730753-117730754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373938735	chr6:117730754-117730755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149736013	chr6:117730773-117730774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145609658	chr6:117730774-117730775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376101389	chr6:117730775-117730776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545356487	chr6:117730776-117730777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369171859	chr6:117730779-117730780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55736087	chr6:117730797-117730798	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150941257	chr6:117730798-117730799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140860347	chr6:117730804-117730805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2273601	chr6:117730819-117730820	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
22	rs369894311	chr6:117730820-117730821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140610109	chr6:117730824-117730825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111804702	chr6:117730845-117730846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370385605	chr6:117730847-117730848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573996456	chr6:117730866-117730867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531711886	chr6:117730886-117730887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550292264	chr6:117730887-117730888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2243375	chr6:117730899-117730900	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2243374	chr6:117730907-117730908	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547685085	chr6:117730919-117730920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145850841	chr6:117730925-117730926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564016426	chr6:117730942-117730943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536408554	chr6:117730953-117730954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138431188	chr6:117730956-117730957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569879725	chr6:117731033-117731034	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531147520	chr6:117731034-117731035	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189990554	chr6:117731035-117731036	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558651878	chr6:117731105-117731106	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9372479	chr6:117731107-117731108	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs199797608	chr6:117731127-117731128	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71543239	chr6:117731128-117731129	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1321800	chr6:117731129-117731130	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs34477601	chr6:117731130-117731131	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572408605	chr6:117731151-117731152	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202130176	chr6:117731160-117731161	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528546777	chr6:117731165-117731166	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1321799	chr6:117731177-117731178	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs1321798	chr6:117731192-117731193	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs531968381	chr6:117731263-117731264	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117692600-117735800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:117716600-117730600	Weak transcription	HSMM	muscle
3	chr6:117723200-117737600	Weak transcription	Lung	lung
4	chr6:117729000-117732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:117730600-117731400	Strong transcription	HSMM	muscle
6	chr6:117731000-117732200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:117731400-117732600	Weak transcription	HSMM	muscle
8	chr6:117731600-117732000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:117731800-117732400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:117731800-117732400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:117732400-117737200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:117732600-117733000	Enhancers	HSMM	muscle
13	chr6:117732600-117733000	Enhancers	HSMMtube	muscle
14	chr6:117732600-117733200	Enhancers	HMEC	breast
15	chr6:117732600-117733400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:117733000-117735600	Weak transcription	HSMM	muscle
17	chr6:117733000-117735800	Weak transcription	HSMMtube	muscle
18	chr6:117733200-117735800	Weak transcription	HMEC	breast
19	chr6:117733400-117735800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:117735200-117736600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:117735600-117736600	Enhancers	HSMM	muscle
22	chr6:117735800-117736200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:117735800-117736400	Enhancers	HepG2	liver
24	chr6:117735800-117736600	Enhancers	HMEC	breast
25	chr6:117735800-117736800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:117735800-117736800	Enhancers	HSMMtube	muscle
27	chr6:117736600-117744400	Weak transcription	HSMM	muscle
28	chr6:117736800-117737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:117737200-117737600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:117737400-117739400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:117737600-117738000	Enhancers	Lung	lung
32	chr6:117739000-117740000	Enhancers	Fetal Intestine Large	intestine
33	chr6:117739400-117740600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:117739400-117745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:117739600-117740000	Enhancers	Fetal Intestine Small	intestine
36	chr6:117740000-117741200	Weak transcription	Fetal Intestine Large	intestine

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