Variant report

Variant	nsv604141
Chromosome Location	chr6:92998916-93076683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:93073777..93076004-chr6:93079318..93081094,2	K562	blood:
2	chr6:93025598..93027603-chr6:93032069..93034381,2	K562	blood:
3	chr6:93040169..93042395-chr6:93071437..93074372,2	K562	blood:
4	chr6:93030191..93031984-chr6:93042467..93044546,2	MCF-7	breast:
5	chr6:93040169..93042395-chr6:93071437..93074372,2	K562	blood:
6	chr6:93025598..93027603-chr6:93032069..93034381,2	K562	blood:
7	chr6:93030191..93031984-chr6:93042467..93044546,2	MCF-7	breast:

Extended variants
information (count: 1294 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1294 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559937806	chr6:93011613-93011614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146875171	chr6:93011619-93011620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553772076	chr6:93011625-93011626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180880310	chr6:93011628-93011629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140735691	chr6:93011635-93011636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555825753	chr6:93011637-93011638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145770696	chr6:93011641-93011642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535925129	chr6:93011661-93011662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1596490	chr6:93011724-93011725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76426032	chr6:93011738-93011739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536122273	chr6:93011759-93011760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138282493	chr6:93011769-93011770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552019840	chr6:93011777-93011778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568911682	chr6:93011784-93011785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572660501	chr6:93011797-93011798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140841510	chr6:93011857-93011858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541350067	chr6:93011871-93011872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9345225	chr6:93011914-93011915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561379317	chr6:93011938-93011939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367819024	chr6:93011975-93011976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530017935	chr6:93011992-93011993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6911336	chr6:93012010-93012011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183468664	chr6:93012015-93012016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563737672	chr6:93012016-93012017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538077011	chr6:93012035-93012036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115176891	chr6:93012037-93012038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143083200	chr6:93012073-93012074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148181834	chr6:93012093-93012094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189380538	chr6:93012094-93012095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1947048	chr6:93012151-93012152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs535811741	chr6:93012186-93012187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555864638	chr6:93012208-93012209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575687310	chr6:93012209-93012210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142697759	chr6:93012240-93012241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181986874	chr6:93012317-93012318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12660866	chr6:93012323-93012324	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186171023	chr6:93012325-93012326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192072861	chr6:93012328-93012329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147363797	chr6:93012377-93012378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111952480	chr6:93012388-93012389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546523670	chr6:93012394-93012395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142704724	chr6:93038220-93038221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562160443	chr6:93038250-93038251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147603423	chr6:93038256-93038257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544708598	chr6:93038262-93038263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376070127	chr6:93038285-93038286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560612561	chr6:93038294-93038295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4304134	chr6:93038298-93038299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560728664	chr6:93038335-93038336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527388321	chr6:93038397-93038398	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93011600-93012400	Enhancers	Fetal Heart	heart
2	chr6:93038200-93040400	Enhancers	Hela-S3	cervix
3	chr6:93039000-93039600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:93040400-93047800	Weak transcription	Hela-S3	cervix
5	chr6:93043600-93044000	Enhancers	Stomach Mucosa	stomach
6	chr6:93044000-93045000	Weak transcription	Stomach Mucosa	stomach
7	chr6:93045000-93045600	Enhancers	Stomach Mucosa	stomach
8	chr6:93045600-93050600	Weak transcription	Stomach Mucosa	stomach
9	chr6:93047800-93052400	Enhancers	Hela-S3	cervix
10	chr6:93049000-93050200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:93050200-93050600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:93050600-93051000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:93050600-93052000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:93050800-93051000	Enhancers	Stomach Mucosa	stomach
15	chr6:93052400-93064000	Weak transcription	Hela-S3	cervix
16	chr6:93059800-93060200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:93064000-93064400	Enhancers	Adipose Nuclei	Adipose
18	chr6:93064000-93064400	Enhancers	Hela-S3	cervix
19	chr6:93064000-93064600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:93071800-93072000	Enhancers	Brain Hippocampus Middle	brain
21	chr6:93071800-93072000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:93071800-93072400	Enhancers	Brain Substantia Nigra	brain
23	chr6:93071800-93073000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:93071800-93073200	Enhancers	Fetal Lung	lung
25	chr6:93071800-93076600	Enhancers	HepG2	liver
26	chr6:93072000-93072200	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr6:93072000-93072200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr6:93072000-93072400	Enhancers	Brain Anterior Caudate	brain
29	chr6:93072000-93072400	Enhancers	Fetal Stomach	stomach
30	chr6:93072200-93072400	Active TSS	Brain Hippocampus Middle	brain
31	chr6:93072200-93072600	Enhancers	Brain Angular Gyrus	brain
32	chr6:93072200-93072600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:93072200-93072600	Enhancers	Fetal Brain Male	brain
34	chr6:93072200-93073000	Enhancers	Small Intestine	intestine
35	chr6:93072400-93074400	Weak transcription	Brain Hippocampus Middle	brain
36	chr6:93072400-93074600	Weak transcription	Brain Substantia Nigra	brain
37	chr6:93072400-93074600	Weak transcription	Fetal Stomach	stomach
38	chr6:93072400-93074800	Weak transcription	Brain Anterior Caudate	brain
39	chr6:93072600-93073000	Weak transcription	Brain Angular Gyrus	brain
40	chr6:93072600-93073000	Weak transcription	Fetal Brain Male	brain
41	chr6:93072600-93074800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:93073000-93073200	Enhancers	Brain Angular Gyrus	brain
43	chr6:93073000-93073200	Enhancers	Fetal Brain Male	brain
44	chr6:93073200-93074600	Weak transcription	Brain Angular Gyrus	brain
45	chr6:93073200-93075400	Weak transcription	Fetal Brain Male	brain
46	chr6:93074400-93075000	Enhancers	Brain Hippocampus Middle	brain
47	chr6:93074400-93075200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:93074400-93075200	Enhancers	Brain Cingulate Gyrus	brain
49	chr6:93074600-93075000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:93074600-93075000	Enhancers	Brain Angular Gyrus	brain

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