Variant report

Variant	esv2220750
Chromosome Location	chr6:69470994-69471907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69449408..69453188-chr6:69468664..69472430,3	K562	blood:
2	chr6:69347823..69348812-chr6:69470900..69472284,4	K562	blood:
3	chr6:69368749..69371635-chr6:69469945..69471663,2	K562	blood:
4	chr6:69469056..69471849-chr6:69472009..69475947,4	K562	blood:
5	chr6:69367803..69371635-chr6:69469179..69471663,3	K562	blood:
6	chr6:69443233..69444846-chr6:69468097..69471005,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183715828	chr6:69471010-69471011	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574910996	chr6:69471046-69471047	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190043444	chr6:69471085-69471086	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570713741	chr6:69471091-69471092	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557659233	chr6:69471096-69471097	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9351736	chr6:69471113-69471114	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147200725	chr6:69471126-69471127	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558500678	chr6:69471150-69471151	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549738172	chr6:69471158-69471159	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181252516	chr6:69471175-69471176	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528534123	chr6:69471188-69471189	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367794570	chr6:69471237-69471238	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115785286	chr6:69471284-69471285	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs562031571	chr6:69471288-69471289	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567931184	chr6:69471289-69471290	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139620836	chr6:69471290-69471291	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564667476	chr6:69471336-69471337	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535561479	chr6:69471388-69471389	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533568176	chr6:69471396-69471397	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529709780	chr6:69471440-69471441	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs78638334	chr6:69471472-69471473	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs149756695	chr6:69471473-69471474	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs117597467	chr6:69471490-69471491	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548691693	chr6:69471562-69471563	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186348818	chr6:69471563-69471564	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537485169	chr6:69471623-69471624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191598489	chr6:69471624-69471625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577907425	chr6:69471630-69471631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181702430	chr6:69471667-69471668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553648745	chr6:69471683-69471684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144657124	chr6:69471688-69471689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542317817	chr6:69471689-69471690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186334674	chr6:69471709-69471710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539637395	chr6:69471717-69471718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558077102	chr6:69471726-69471727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377355846	chr6:69471778-69471779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544664897	chr6:69471786-69471787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564508061	chr6:69471788-69471789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116285868	chr6:69471798-69471799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547288220	chr6:69471802-69471803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69467200-69485000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:69468400-69480000	Weak transcription	Fetal Lung	lung
3	chr6:69470200-69471000	Enhancers	Brain Substantia Nigra	brain
4	chr6:69470400-69471200	Active TSS	Brain Hippocampus Middle	brain
5	chr6:69470600-69471000	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr6:69470600-69471400	Flanking Active TSS	K562	blood
7	chr6:69470800-69471000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:69470800-69471200	Active TSS	Brain Anterior Caudate	brain
9	chr6:69470800-69471200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:69470800-69471200	Enhancers	Fetal Brain Male	brain
11	chr6:69470800-69471400	Flanking Active TSS	Brain Angular Gyrus	brain
12	chr6:69471000-69471200	Flanking Active TSS	Brain Substantia Nigra	brain
13	chr6:69471000-69471400	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:69471000-69471600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:69471200-69471400	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr6:69471200-69471400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:69471200-69471600	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr6:69471200-69471600	Active TSS	Brain Substantia Nigra	brain
19	chr6:69471400-69471600	Enhancers	Brain Angular Gyrus	brain
20	chr6:69471400-69471600	Active TSS	Brain Hippocampus Middle	brain
21	chr6:69471400-69471600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:69471400-69471600	Enhancers	K562	blood
23	chr6:69471400-69471800	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:69471600-69471800	Enhancers	Brain Substantia Nigra	brain
25	chr6:69471600-69472200	Enhancers	Brain Hippocampus Middle	brain
26	chr6:69471600-69481600	Weak transcription	Brain Anterior Caudate	brain

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