Variant report

Variant	esv3383244
Chromosome Location	chr6:69039031-69042229
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:69039700-69039839	K562	blood:	n/a	n/a
2	GATA2	chr6:69041284-69041557	K562	blood:	n/a	n/a
3	MAFF	chr6:69038770-69039043	HepG2	liver:	n/a	chr6:69038901-69038919
4	MAFK	chr6:69038770-69039055	HepG2	liver:	n/a	chr6:69038902-69038917
5	MYC	chr6:69040782-69040817	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr6:69039424-69039797	MCF10A-Er-Src	breast:	n/a	chr6:69039636-69039647
7	TAL1	chr6:69041170-69041598	K562	blood:	n/a	n/a
8	TEAD4	chr6:69041233-69041448	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:69040879..69043282-chr6:69043307..69044925,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL713998.1-1	chr6:69039683-69039791	XLOC_005757

Variant related genes	Relation type
ENSG00000226497	TF binding region
DKK1	miRNA target sites

Extended variants
information (count: 22 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7761642	chr6:69039685-69039686	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377767189	chr6:69039723-69039724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs7761662	chr6:69039726-69039727	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7747395	chr6:69039753-69039754	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540562705	chr6:69039775-69039776	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs528995475	chr6:69039839-69039840	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs9363900	chr6:69041180-69041181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543257879	chr6:69041204-69041205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs563459535	chr6:69041210-69041211	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs532291616	chr6:69041251-69041252	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545666136	chr6:69041253-69041254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564966812	chr6:69041297-69041298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527664509	chr6:69041320-69041321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs11751599	chr6:69041360-69041361	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs140284556	chr6:69041371-69041372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530167658	chr6:69041427-69041428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs550122447	chr6:69041475-69041476	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs570201543	chr6:69041507-69041508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs117537630	chr6:69041519-69041520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552886964	chr6:69041523-69041524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs35368029	chr6:69041544-69041545	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371636077	chr6:69041560-69041561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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