Variant report

Variant	nsv517922
Chromosome Location	chr6:92365086-92370678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 240 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16884621	chr6:92365086-92365087	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551776914	chr6:92365100-92365101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189743105	chr6:92365129-92365130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534228746	chr6:92365147-92365148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553995984	chr6:92365176-92365177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147866981	chr6:92365186-92365187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73754082	chr6:92365189-92365190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181230953	chr6:92365190-92365191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555204791	chr6:92365198-92365199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575276602	chr6:92365305-92365306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543943596	chr6:92365314-92365315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557797636	chr6:92365369-92365370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74328737	chr6:92365424-92365425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186064445	chr6:92365436-92365437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560463506	chr6:92365445-92365446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77099076	chr6:92365456-92365457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539397879	chr6:92365501-92365502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112351216	chr6:92365536-92365537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111536030	chr6:92365550-92365551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565259680	chr6:92365571-92365572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116059080	chr6:92365582-92365583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531850368	chr6:92365594-92365595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551541624	chr6:92365633-92365634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145424800	chr6:92365639-92365640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527674734	chr6:92365640-92365641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372708769	chr6:92365691-92365692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547722125	chr6:92365695-92365696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567602905	chr6:92365744-92365745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181964434	chr6:92365771-92365772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556738206	chr6:92365795-92365796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570115133	chr6:92365818-92365819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9451749	chr6:92365879-92365880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557883788	chr6:92365895-92365896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186292797	chr6:92365914-92365915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540219833	chr6:92365935-92365936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147731250	chr6:92365938-92365939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141038326	chr6:92365970-92365971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150234670	chr6:92365995-92365996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9451750	chr6:92366011-92366012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191028905	chr6:92366061-92366062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531357003	chr6:92366067-92366068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138945363	chr6:92366168-92366169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565026603	chr6:92366187-92366188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148998261	chr6:92366198-92366199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547362892	chr6:92366217-92366218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145282516	chr6:92366256-92366257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137872818	chr6:92366262-92366263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183603339	chr6:92366280-92366281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543178189	chr6:92366321-92366322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538849084	chr6:92366345-92366346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92363000-92365800	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:92364200-92365200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:92364200-92365400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:92364400-92365200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:92364400-92365200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:92364400-92365200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:92364400-92365400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:92364400-92365400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:92364400-92365400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:92364600-92365400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:92364800-92365200	Enhancers	Brain Germinal Matrix	brain
12	chr6:92364800-92367400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:92364800-92369400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:92365000-92365400	Enhancers	Spleen	Spleen
15	chr6:92365200-92365400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr6:92365200-92365400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:92365400-92365800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:92367800-92368000	Enhancers	HSMMtube	muscle
19	chr6:92369400-92370000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:92370000-92383400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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