Variant report

Variant	esv3473981
Chromosome Location	chr6:48990824-48995153
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	chr6:48994359..48996069-chr6:48999531..49001220,2	K562	blood:
2	chr6:48993257..48996321-chr6:48996970..49002348,7	K562	blood:

Extended variants
information (count: 174 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:174 , 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	rs565138156	chr6:48990854-48990855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191335926	chr6:48990888-48990889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540587085	chr6:48990890-48990891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7772533	chr6:48990948-48990949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs149951758	chr6:48990964-48990965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544442118	chr6:48990969-48990970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28790383	chr6:48990982-48990983	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553690702	chr6:48991011-48991012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182761560	chr6:48991031-48991032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559941758	chr6:48991067-48991068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527298717	chr6:48991073-48991074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74860063	chr6:48991110-48991111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367758478	chr6:48991126-48991127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372593760	chr6:48991164-48991165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7772886	chr6:48991169-48991170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367961149	chr6:48991195-48991196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187683322	chr6:48991222-48991223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531282418	chr6:48991267-48991268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112321350	chr6:48991296-48991297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79146055	chr6:48991322-48991323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35695618	chr6:48991329-48991330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536588922	chr6:48991358-48991359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7755153	chr6:48991427-48991428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs567129934	chr6:48991455-48991456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561719151	chr6:48991477-48991478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534201335	chr6:48991526-48991527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7755316	chr6:48991546-48991547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577442240	chr6:48991554-48991555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544680806	chr6:48991564-48991565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556127427	chr6:48991571-48991572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371768721	chr6:48991594-48991595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147184114	chr6:48991608-48991609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56792356	chr6:48991609-48991610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140506750	chr6:48991620-48991621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536169979	chr6:48991630-48991631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541615769	chr6:48991637-48991638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560410207	chr6:48991646-48991647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191349154	chr6:48991662-48991663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545420081	chr6:48991705-48991706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199728156	chr6:48991706-48991707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12374610	chr6:48991768-48991769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531344633	chr6:48991787-48991788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115388106	chr6:48991800-48991801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568016580	chr6:48991812-48991813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530327825	chr6:48991876-48991877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184559924	chr6:48991877-48991878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145613273	chr6:48991899-48991900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534473375	chr6:48991946-48991947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187777471	chr6:48991957-48991958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570853265	chr6:48991963-48991964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48972800-48993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48993000-48994400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:48993400-48994200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:48993400-48994800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:48994400-49020800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:48994800-48998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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