Variant report

Variant	esv3474647
Chromosome Location	chr6:167195362-167200060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167199892..167200482-chr6:167403182..167403715,3	MCF-7	breast:
2	chr6:167187491..167191588-chr6:167191761..167196442,4	K562	blood:
3	chr6:167198453..167200233-chr6:167409946..167412844,2	K562	blood:
4	chr6:167200059..167200966-chr6:167402403..167403438,4	K562	blood:
5	chr6:167200031..167200812-chr6:167555407..167555996,2	K562	blood:
6	chr6:167187491..167189760-chr6:167193508..167196442,3	K562	blood:
7	chr6:167199917..167200852-chr6:167555354..167555927,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265828	chromatin interactions
ENSG00000227598	chromatin interactions
ENSG00000213066	chromatin interactions

Extended variants
information (count: 305 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112068878	chr6:167195382-167195383	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542722424	chr6:167195414-167195415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184535742	chr6:167195473-167195474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371532473	chr6:167195499-167195500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529054322	chr6:167195500-167195501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550906864	chr6:167195576-167195577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569214767	chr6:167195666-167195667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533074572	chr6:167195667-167195668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35637883	chr6:167195716-167195717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187399344	chr6:167195731-167195732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77852948	chr6:167195770-167195771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71721078	chr6:167195771-167195772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398072935	chr6:167195772-167195773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138583354	chr6:167195773-167195774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373564176	chr6:167195811-167195812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533901133	chr6:167195812-167195813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73788141	chr6:167195834-167195835	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567522646	chr6:167195847-167195848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538008836	chr6:167195872-167195873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147095612	chr6:167195877-167195878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7357046	chr6:167195911-167195912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs545352589	chr6:167196001-167196002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562397467	chr6:167196020-167196021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs845641	chr6:167196032-167196033	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs191937180	chr6:167196052-167196053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs845642	chr6:167196064-167196065	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs561328361	chr6:167196077-167196078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374470447	chr6:167196138-167196139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184059005	chr6:167196165-167196166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11759767	chr6:167196188-167196189	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562522463	chr6:167196213-167196214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6415092	chr6:167196263-167196264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs77688808	chr6:167196301-167196302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138263532	chr6:167196324-167196325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6456126	chr6:167196327-167196328	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149593319	chr6:167196380-167196381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6456127	chr6:167196403-167196404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537542299	chr6:167196407-167196408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10556799	chr6:167196413-167196414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398066496	chr6:167196419-167196420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13204401	chr6:167196499-167196500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549988571	chr6:167196516-167196517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11970352	chr6:167196535-167196536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371335108	chr6:167196537-167196538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71686287	chr6:167196567-167196568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370184338	chr6:167196583-167196584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549852227	chr6:167196661-167196662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554126146	chr6:167196665-167196666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189955674	chr6:167196731-167196732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs845643	chr6:167196776-167196777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:89)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Autism	22549408	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167182200-167218600	Weak transcription	Right Atrium	heart
2	chr6:167195200-167195400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:167195200-167195400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr6:167195200-167196200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:167195400-167196200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:167196200-167196400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr6:167196400-167198600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:167196800-167197000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:167198400-167198800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:167198600-167198800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:167198600-167198800	Enhancers	Brain Inferior Temporal Lobe	brain

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