Variant report

Variant	nsv462946
Chromosome Location	chr6:54403797-54440633
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	chr6:54433346..54436074-chr6:54443412..54445005,2	MCF-7	breast:
2	chr6:54438796..54440751-chr6:54452137..54454145,2	MCF-7	breast:

Extended variants
information (count: 420 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373182323	chr6:54404415-54404416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576434714	chr6:54404417-54404418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145437073	chr6:54404419-54404420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528154557	chr6:54404445-54404446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545071811	chr6:54404474-54404475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564866963	chr6:54404489-54404490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530837824	chr6:54404501-54404502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148823841	chr6:54404528-54404529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371420620	chr6:54404601-54404602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145319499	chr6:54404646-54404647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546452770	chr6:54404736-54404737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377446753	chr6:54404775-54404776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534797533	chr6:54404836-54404837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551369110	chr6:54404853-54404854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186144769	chr6:54404866-54404867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537370459	chr6:54404908-54404909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75599623	chr6:54404909-54404910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571809281	chr6:54404923-54404924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11965139	chr6:54404942-54404943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536878598	chr6:54404960-54404961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569968	chr6:54404993-54404994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs572935233	chr6:54405012-54405013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545085920	chr6:54405047-54405048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79729949	chr6:54405053-54405054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147634866	chr6:54405055-54405056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544536411	chr6:54405056-54405057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142190247	chr6:54405093-54405094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs243743	chr6:54405106-54405107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191971172	chr6:54405110-54405111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560047494	chr6:54405144-54405145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528566607	chr6:54405165-54405166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551432550	chr6:54405178-54405179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571322997	chr6:54405255-54405256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574943936	chr6:54405275-54405276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113332984	chr6:54405276-54405277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544151444	chr6:54405303-54405304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537287806	chr6:54405310-54405311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567997380	chr6:54405372-54405373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536536371	chr6:54405450-54405451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370612364	chr6:54405483-54405484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563925461	chr6:54405494-54405495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544174	chr6:54405504-54405505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538763452	chr6:54405505-54405506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558654699	chr6:54405523-54405524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575385995	chr6:54405541-54405542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546260091	chr6:54405553-54405554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544269934	chr6:54405561-54405562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560709759	chr6:54405624-54405625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574684222	chr6:54405636-54405637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559760802	chr6:54405647-54405648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54404400-54404800	Enhancers	Osteobl	bone
2	chr6:54404800-54405800	Weak transcription	Osteobl	bone
3	chr6:54405800-54407000	Enhancers	Osteobl	bone
4	chr6:54406000-54406800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:54406000-54407400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:54406000-54407400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:54406400-54406800	Enhancers	Aorta	Aorta
8	chr6:54407200-54407400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:54407400-54411600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:54411600-54411800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:54424000-54426200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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