Variant report

Variant	nsv526934
Chromosome Location	chr6:117718303-117719528
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	chr6:117716647..117718338-chr6:117719762..117722321,2	K562	blood:
2	chr6:117719374..117721579-chr6:117722157..117724874,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 115 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9401003	chr6:117718303-117718304	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371671682	chr6:117718324-117718325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530282437	chr6:117718357-117718358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529699255	chr6:117718359-117718360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199816916	chr6:117718360-117718361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549638309	chr6:117718363-117718364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115638513	chr6:117718387-117718388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140813329	chr6:117718388-117718389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549978386	chr6:117718406-117718407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571367875	chr6:117718415-117718416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538749810	chr6:117718420-117718421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369195730	chr6:117718422-117718423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574271965	chr6:117718454-117718455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554019697	chr6:117718532-117718533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566054240	chr6:117718536-117718537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536284028	chr6:117718547-117718548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554824419	chr6:117718550-117718551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539310573	chr6:117718553-117718554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187639800	chr6:117718601-117718602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543605283	chr6:117718621-117718622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558792298	chr6:117718629-117718630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192505705	chr6:117718632-117718633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116777180	chr6:117718639-117718640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559219738	chr6:117718762-117718763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376403461	chr6:117718810-117718811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3798387	chr6:117718813-117718814	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs541483351	chr6:117718916-117718917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561593104	chr6:117718945-117718946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75086782	chr6:117718948-117718949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531892788	chr6:117719015-117719016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549915112	chr6:117719040-117719041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3777973	chr6:117719056-117719057	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75680757	chr6:117719110-117719111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547853613	chr6:117719139-117719140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566067329	chr6:117719146-117719147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536619083	chr6:117719161-117719162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182383951	chr6:117719226-117719227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578080331	chr6:117719256-117719257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188024248	chr6:117719261-117719262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537342520	chr6:117719365-117719366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34108003	chr6:117719385-117719386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62430839	chr6:117719396-117719397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577098049	chr6:117719424-117719425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200457551	chr6:117719444-117719445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148062936	chr6:117719445-117719446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200254334	chr6:117719447-117719448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376530107	chr6:117719452-117719453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76517505	chr6:117719482-117719483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553006037	chr6:117719491-117719492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9401004	chr6:117719528-117719529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:14 , 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	chr6:117716400-117719600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:117716600-117730600	Weak transcription	HSMM	muscle
4	chr6:117717400-117718600	Weak transcription	Left Ventricle	heart
5	chr6:117717800-117718800	Weak transcription	HepG2	liver
6	chr6:117718000-117718600	Weak transcription	Liver	Liver
7	chr6:117718200-117728200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:117718600-117718800	Enhancers	Liver	Liver
9	chr6:117718600-117718800	Enhancers	Left Ventricle	heart
10	chr6:117718600-117719200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:117718800-117719200	Enhancers	Fetal Brain Female	brain
12	chr6:117718800-117719200	Enhancers	HepG2	liver
13	chr6:117719000-117719200	Enhancers	Osteobl	bone
14	chr6:117719200-117725800	Weak transcription	Osteobl	bone

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