Variant report

Variant	esv3474550
Chromosome Location	chr6:48929393-48935091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:48930520..48932119-chr6:48937053..48938837,2	MCF-7	breast:
2	chr6:48925640..48928560-chr6:48933916..48936835,2	K562	blood:
3	chr6:48923639..48925740-chr6:48930258..48932509,2	K562	blood:

Extended variants
information (count: 211 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543561980	chr6:48929402-48929403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs36068984	chr6:48929442-48929443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189143657	chr6:48929457-48929458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529303815	chr6:48929491-48929492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529100862	chr6:48929546-48929547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547583218	chr6:48929590-48929591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566016177	chr6:48929608-48929609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533245366	chr6:48929621-48929622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551440879	chr6:48929636-48929637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192536688	chr6:48929657-48929658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184221705	chr6:48929694-48929695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369229500	chr6:48929743-48929744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58789029	chr6:48929773-48929774	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189027484	chr6:48929849-48929850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113052166	chr6:48929855-48929856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181846438	chr6:48929856-48929857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572433383	chr6:48929904-48929905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186457744	chr6:48929936-48929937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57718610	chr6:48929938-48929939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116226820	chr6:48929953-48929954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139468830	chr6:48929954-48929955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7767596	chr6:48929995-48929996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189764401	chr6:48930006-48930007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570356710	chr6:48930026-48930027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541258001	chr6:48930027-48930028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559588244	chr6:48930031-48930032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533303601	chr6:48930083-48930084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149684169	chr6:48930096-48930097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551323726	chr6:48930224-48930225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73737140	chr6:48930267-48930268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570068526	chr6:48930292-48930293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535471508	chr6:48930296-48930297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139281196	chr6:48930369-48930370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180894054	chr6:48930382-48930383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571797078	chr6:48930435-48930436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565942795	chr6:48930448-48930449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12213551	chr6:48930453-48930454	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558189988	chr6:48930454-48930455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576642977	chr6:48930463-48930464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537087019	chr6:48930476-48930477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555712526	chr6:48930477-48930478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370373228	chr6:48930485-48930486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374288266	chr6:48930520-48930521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185337092	chr6:48930548-48930549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541530771	chr6:48930575-48930576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16878485	chr6:48930623-48930624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577913042	chr6:48930626-48930627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34955964	chr6:48930651-48930652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545158196	chr6:48930666-48930667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563449988	chr6:48930703-48930704	Enhancers 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
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	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48928800-48930000	Enhancers	Hela-S3	cervix
3	chr6:48929400-48930800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:48929600-48930000	Enhancers	Fetal Lung	lung
5	chr6:48933000-48933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:48933400-48934000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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