Variant report

Variant	nsv604140
Chromosome Location	chr6:92983291-93068305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:93040169..93042395-chr6:93071437..93074372,2	K562	blood:
2	chr6:93030191..93031984-chr6:93042467..93044546,2	MCF-7	breast:
3	chr6:93030191..93031984-chr6:93042467..93044546,2	MCF-7	breast:
4	chr6:93025598..93027603-chr6:93032069..93034381,2	K562	blood:
5	chr6:93025598..93027603-chr6:93032069..93034381,2	K562	blood:

Extended variants
information (count: 1174 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1174 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376743537	chr6:92983443-92983444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572703656	chr6:92983452-92983453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73754406	chr6:92983476-92983477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555215185	chr6:92983501-92983502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541619991	chr6:92983519-92983520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146815757	chr6:92983616-92983617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139648676	chr6:92983617-92983618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192223659	chr6:92983628-92983629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35732872	chr6:92983642-92983643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578251853	chr6:92983682-92983683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540879629	chr6:92983728-92983729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567789381	chr6:92983745-92983746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560834581	chr6:92983759-92983760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185886164	chr6:92983760-92983761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142008026	chr6:92990025-92990026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192188819	chr6:92990037-92990038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535442259	chr6:92990039-92990040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142829922	chr6:92990051-92990052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146094708	chr6:92990052-92990053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148705219	chr6:92990098-92990099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558345849	chr6:92990142-92990143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578192659	chr6:92990152-92990153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534456342	chr6:92990165-92990166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142271588	chr6:92990221-92990222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144792813	chr6:92990236-92990237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568985055	chr6:92990237-92990238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574019298	chr6:92990241-92990242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542596421	chr6:92990243-92990244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375071922	chr6:92990245-92990246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12205781	chr6:92990247-92990248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111847730	chr6:92990249-92990250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544018624	chr6:92990256-92990257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184355703	chr6:92990279-92990280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189926523	chr6:92990281-92990282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377093674	chr6:92990286-92990287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370220399	chr6:92990287-92990288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73518026	chr6:92990304-92990305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs118174506	chr6:92990373-92990374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544311869	chr6:92990384-92990385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571855815	chr6:92990602-92990603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576255078	chr6:92990611-92990612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534119831	chr6:92990617-92990618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189273943	chr6:92990628-92990629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574229389	chr6:92990685-92990686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536268950	chr6:92990692-92990693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73754411	chr6:92990711-92990712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374153790	chr6:92990746-92990747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576139072	chr6:92990758-92990759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561410056	chr6:92990763-92990764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545054965	chr6:92990836-92990837	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92983400-92983800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:92990000-92990400	Enhancers	Fetal Heart	heart
3	chr6:92990600-92991000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:92990600-92991200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:92990600-92991400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:92990800-92991200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:92991000-92991600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:93011600-93012400	Enhancers	Fetal Heart	heart
9	chr6:93038200-93040400	Enhancers	Hela-S3	cervix
10	chr6:93039000-93039600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:93040400-93047800	Weak transcription	Hela-S3	cervix
12	chr6:93043600-93044000	Enhancers	Stomach Mucosa	stomach
13	chr6:93044000-93045000	Weak transcription	Stomach Mucosa	stomach
14	chr6:93045000-93045600	Enhancers	Stomach Mucosa	stomach
15	chr6:93045600-93050600	Weak transcription	Stomach Mucosa	stomach
16	chr6:93047800-93052400	Enhancers	Hela-S3	cervix
17	chr6:93049000-93050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:93050200-93050600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:93050600-93051000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:93050600-93052000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr6:93050800-93051000	Enhancers	Stomach Mucosa	stomach
22	chr6:93052400-93064000	Weak transcription	Hela-S3	cervix
23	chr6:93059800-93060200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:93064000-93064400	Enhancers	Adipose Nuclei	Adipose
25	chr6:93064000-93064400	Enhancers	Hela-S3	cervix
26	chr6:93064000-93064600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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