Variant report

Variant	nsv981142
Chromosome Location	chr6:49217878-49220902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537170512	chr6:49220082-49220083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181851822	chr6:49220104-49220105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574085469	chr6:49220108-49220109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557375507	chr6:49220112-49220113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377077289	chr6:49220133-49220134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371215680	chr6:49220140-49220141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115188215	chr6:49220153-49220154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201952284	chr6:49220199-49220200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553342977	chr6:49220212-49220213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138751726	chr6:49220231-49220232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186187344	chr6:49220258-49220259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62411887	chr6:49220261-49220262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545974573	chr6:49220280-49220281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571006567	chr6:49220320-49220321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs519426	chr6:49220329-49220330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs519217	chr6:49220411-49220412	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188501093	chr6:49220441-49220442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371085370	chr6:49220464-49220465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528124741	chr6:49220655-49220656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528688027	chr6:49220662-49220663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541971603	chr6:49220720-49220721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141854976	chr6:49220727-49220728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181312284	chr6:49220729-49220730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562063914	chr6:49220747-49220748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533329077	chr6:49220764-49220765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551924427	chr6:49220785-49220786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185281277	chr6:49220795-49220796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76416894	chr6:49220813-49220814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567655836	chr6:49220846-49220847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138821626	chr6:49220866-49220867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553279730	chr6:49220871-49220872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190972275	chr6:49220883-49220884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116201706	chr6:49220893-49220894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557076153	chr6:49220895-49220896	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Melanoma	18172304	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
Hodgkin''s lymphoma	17606441	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49220000-49221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:49220400-49221000	Enhancers	NHEK	skin
3	chr6:49220400-49221400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:49220400-49221400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:49220600-49221000	Enhancers	HMEC	breast

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