Variant report

Variant	nsv1025276
Chromosome Location	chr6:55349638-55374178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 264 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532123713	chr6:55352406-55352407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558405179	chr6:55352419-55352420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551847712	chr6:55352566-55352567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6459081	chr6:55352586-55352587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs372528366	chr6:55352595-55352596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531924977	chr6:55352625-55352626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550253693	chr6:55352630-55352631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558583289	chr6:55352644-55352645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187494113	chr6:55352660-55352661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567966861	chr6:55352674-55352675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536527774	chr6:55352695-55352696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192934530	chr6:55352714-55352715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184572596	chr6:55352755-55352756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370544838	chr6:55352758-55352759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74916287	chr6:55352783-55352784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546378927	chr6:55352814-55352815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76891393	chr6:55352859-55352860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575600784	chr6:55352891-55352892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544417647	chr6:55352912-55352913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554453167	chr6:55352940-55352941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116426588	chr6:55352947-55352948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111329460	chr6:55352960-55352961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7756150	chr6:55353017-55353018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7756162	chr6:55353039-55353040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545349204	chr6:55353057-55353058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9475313	chr6:55353069-55353070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs531276837	chr6:55353076-55353077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188260373	chr6:55353115-55353116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7756201	chr6:55353136-55353137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10456714	chr6:55353154-55353155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144842031	chr6:55353170-55353171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9296784	chr6:55353233-55353234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147936840	chr6:55353242-55353243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192263191	chr6:55353244-55353245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569348969	chr6:55353268-55353269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537932495	chr6:55353293-55353294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554795821	chr6:55353299-55353300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574539101	chr6:55353313-55353314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61420782	chr6:55353316-55353317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9475314	chr6:55353353-55353354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75451364	chr6:55353375-55353376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141732043	chr6:55353385-55353386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562332271	chr6:55353442-55353443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567224855	chr6:55353454-55353455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575250525	chr6:55353475-55353476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184282278	chr6:55353540-55353541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189439372	chr6:55353565-55353566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371862428	chr6:55353576-55353577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62407071	chr6:55353585-55353586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547168804	chr6:55353597-55353598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55352400-55355200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:55358000-55358200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:55358000-55358200	Enhancers	NHEK	skin
4	chr6:55358200-55359200	Weak transcription	NHEK	skin
5	chr6:55358800-55359000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
6	chr6:55359000-55359400	Enhancers	Colon Smooth Muscle	Colon
7	chr6:55359000-55360400	Enhancers	Fetal Lung	lung
8	chr6:55359200-55361400	Enhancers	NHEK	skin
9	chr6:55359200-55361600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:55359800-55361600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:55359800-55361600	Enhancers	HMEC	breast
12	chr6:55360000-55360400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:55360400-55361400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:55360600-55361800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr6:55361200-55361600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:55362400-55363000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:55362400-55363000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:55362400-55363000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:55362400-55363000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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