Variant report

Variant	nsv981178
Chromosome Location	chr6:117720243-117721600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117720042..117721647-chr6:117923328..117925644,2	MCF-7	breast:
2	chr6:117716647..117718338-chr6:117719762..117722321,2	K562	blood:
3	chr6:117719374..117721579-chr6:117722157..117724874,2	K562	blood:
4	chr6:117720955..117721772-chr6:118150708..118151251,2	MCF-7	breast:
5	chr6:117720859..117721735-chr6:117926183..117926996,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047932	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574876603	chr6:117720291-117720292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545422027	chr6:117720328-117720329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566239058	chr6:117720402-117720403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78175683	chr6:117720420-117720421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577481558	chr6:117720421-117720422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541570050	chr6:117720466-117720467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533686458	chr6:117720521-117720522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117248956	chr6:117720529-117720530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530361708	chr6:117720585-117720586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs74958664	chr6:117720712-117720713	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17079129	chr6:117720734-117720735	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530900512	chr6:117720758-117720759	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144109727	chr6:117720771-117720772	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189002701	chr6:117720775-117720776	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192008338	chr6:117720832-117720833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs3777974	chr6:117720833-117720834	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184607898	chr6:117720836-117720837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535673791	chr6:117720919-117720920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs556615889	chr6:117720984-117720985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568632604	chr6:117721038-117721039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3777975	chr6:117721039-117721040	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557338619	chr6:117721045-117721046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577418049	chr6:117721087-117721088	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114131945	chr6:117721194-117721195	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs3777976	chr6:117721203-117721204	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4946252	chr6:117721211-117721212	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189317047	chr6:117721232-117721233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13203726	chr6:117721376-117721377	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs182572243	chr6:117721395-117721396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546174133	chr6:117721460-117721461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13204089	chr6:117721461-117721462	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs528526716	chr6:117721488-117721489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546561112	chr6:117721512-117721513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568371890	chr6:117721513-117721514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs41528247	chr6:117721552-117721553	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550374516	chr6:117721593-117721594	Weak transcription	Chromatin interactive region	1 gene(s)	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:5 , 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	chr6:117718200-117728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:117719200-117725800	Weak transcription	Osteobl	bone
5	chr6:117720600-117720800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links