Variant report

Variant	nsv462989
Chromosome Location	chr6:66345842-66374804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:66366176..66367861-chr6:66369902..66372494,2	K562	blood:
2	chr6:66344295..66347269-chr6:66347639..66350147,2	MCF-7	breast:
3	chr6:66366176..66367861-chr6:66369902..66372494,2	K562	blood:
4	chr6:66344295..66347269-chr6:66347639..66350147,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGSN-7	chr6:66349671-66349785	NONHSAT113373

Extended variants
information (count: 192 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541978110	chr6:66346006-66346007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539750541	chr6:66346020-66346021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1586655	chr6:66346030-66346031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570008359	chr6:66346070-66346071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537286496	chr6:66346075-66346076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550710501	chr6:66346083-66346084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1586656	chr6:66346089-66346090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs533189840	chr6:66346093-66346094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143957991	chr6:66346102-66346103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567126956	chr6:66346112-66346113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138554316	chr6:66346116-66346117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549515310	chr6:66346130-66346131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1586657	chr6:66346131-66346132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537146273	chr6:66346153-66346154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557132397	chr6:66346185-66346186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10944830	chr6:66346188-66346189	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553504421	chr6:66346241-66346242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186248292	chr6:66346253-66346254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553023988	chr6:66346272-66346273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573054825	chr6:66346273-66346274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1586658	chr6:66346347-66346348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545784122	chr6:66346388-66346389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575391216	chr6:66346399-66346400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139365915	chr6:66347412-66347413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529309340	chr6:66347418-66347419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543287647	chr6:66347433-66347434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150024091	chr6:66347449-66347450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559488642	chr6:66347462-66347463	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147719196	chr6:66347469-66347470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182373660	chr6:66347476-66347477	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs6933242	chr6:66347501-66347502	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533060614	chr6:66347515-66347516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376630844	chr6:66347519-66347520	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546419969	chr6:66347564-66347565	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566449239	chr6:66347602-66347603	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs187871595	chr6:66347604-66347605	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140861464	chr6:66347624-66347625	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144707738	chr6:66347627-66347628	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192601055	chr6:66347764-66347765	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562569769	chr6:66347774-66347775	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577461736	chr6:66347792-66347793	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540318692	chr6:66347796-66347797	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554007376	chr6:66347797-66347798	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6911669	chr6:66347822-66347823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147884281	chr6:66347853-66347854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148921809	chr6:66347864-66347865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114376809	chr6:66347885-66347886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545764981	chr6:66347889-66347890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12207870	chr6:66347911-66347912	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527924726	chr6:66347914-66347915	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66346000-66346400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:66347400-66347600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:66347600-66347800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:66347600-66348000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:66347600-66348400	Enhancers	Placenta	Placenta
6	chr6:66347800-66348800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:66348400-66348800	Enhancers	Adipose Nuclei	Adipose
8	chr6:66348400-66348800	Enhancers	Pancreas	Pancrea
9	chr6:66359400-66360200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:66359600-66360600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:66359600-66360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:66359600-66361600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:66359800-66360600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:66360000-66360400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:66360400-66360800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:66374000-66375200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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