Variant report

Variant	esv3436771
Chromosome Location	chr6:49563343-49564791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49561467..49563858-chr6:49563935..49566461,2	K562	blood:
2	chr6:49540165..49543032-chr6:49562868..49565435,2	K562	blood:
3	chr6:49524843..49527402-chr6:49563195..49565478,2	MCF-7	breast:
4	chr6:49561467..49563858-chr6:49563935..49566461,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560898113	chr6:49563352-49563353	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs550519044	chr6:49563392-49563393	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529573748	chr6:49563400-49563401	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75139443	chr6:49563411-49563412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28475419	chr6:49563418-49563419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13220374	chr6:49563424-49563425	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138305693	chr6:49563446-49563447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551994846	chr6:49563482-49563483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142371194	chr6:49563485-49563486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6941803	chr6:49563512-49563513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549126437	chr6:49563515-49563516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35414471	chr6:49563516-49563517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567624441	chr6:49563593-49563594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549739075	chr6:49563630-49563631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534689075	chr6:49563638-49563639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146349511	chr6:49563646-49563647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191950589	chr6:49563655-49563656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71002670	chr6:49563667-49563668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12202761	chr6:49563668-49563669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12216439	chr6:49563672-49563673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12202763	chr6:49563678-49563679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571202166	chr6:49563709-49563710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373452153	chr6:49563793-49563794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182929110	chr6:49563794-49563795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556688465	chr6:49563809-49563810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556192414	chr6:49563818-49563819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12177501	chr6:49563832-49563833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188368413	chr6:49563849-49563850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189826569	chr6:49563864-49563865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182432170	chr6:49563870-49563871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186817961	chr6:49563887-49563888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192356815	chr6:49563916-49563917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200695887	chr6:49563923-49563924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112420277	chr6:49563931-49563932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201572706	chr6:49563947-49563948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572822858	chr6:49563952-49563953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539832237	chr6:49563965-49563966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562416838	chr6:49564005-49564006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560130061	chr6:49564022-49564023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199853790	chr6:49564025-49564026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201291391	chr6:49564030-49564031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375843802	chr6:49564032-49564033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574466428	chr6:49564041-49564042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554251122	chr6:49564047-49564048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201076042	chr6:49564066-49564067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369733810	chr6:49564067-49564068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545626079	chr6:49564083-49564084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373987005	chr6:49564094-49564095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574401169	chr6:49564100-49564101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536917503	chr6:49564110-49564111	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49563200-49563400	Flanking Active TSS	K562	blood
2	chr6:49563400-49563600	Enhancers	K562	blood
3	chr6:49563600-49572600	Weak transcription	K562	blood
4	chr6:49564600-49565400	Enhancers	Hela-S3	cervix
5	chr6:49564600-49565400	Bivalent Enhancer	HUVEC	blood vessel

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