Variant report

Variant	esv3388030
Chromosome Location	chr6:50018893-50022691
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	POLR2A	chr6:50018786-50018897	Gliobla	brain:	n/a	n/a
2	POLR2A	chr6:50019709-50019852	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr6:50020794-50020960	K562	blood:	n/a	n/a
4	STAT3	chr6:50019776-50020070	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49962201..49964799-chr6:50021100..50023461,2	K562	blood:
2	chr6:50019771..50021616-chr6:50095745..50098206,2	K562	blood:

Variant related genes	Relation type
DEFB112	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538986010	chr6:50019722-50019723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs141852304	chr6:50019724-50019725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs571164657	chr6:50019725-50019726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs180977328	chr6:50019735-50019736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs73739916	chr6:50019744-50019745	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146263967	chr6:50019760-50019761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542880062	chr6:50019779-50019780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552911376	chr6:50019789-50019790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573056677	chr6:50019814-50019815	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs544981159	chr6:50019816-50019817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs114707821	chr6:50019841-50019842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530856428	chr6:50019860-50019861	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200625762	chr6:50019920-50019921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs184683270	chr6:50019924-50019925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs1238738	chr6:50019953-50019954	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs549530457	chr6:50019980-50019981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs679989	chr6:50020056-50020057	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532203582	chr6:50020833-50020834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs116779082	chr6:50020855-50020856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191669411	chr6:50020894-50020895	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563074604	chr6:50020914-50020915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571692763	chr6:50020922-50020923	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73739917	chr6:50020933-50020934	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550558181	chr6:50020953-50020954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs567277874	chr6:50020958-50020959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577016808	chr6:50022406-50022407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574409265	chr6:50022428-50022429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560108235	chr6:50022461-50022462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576554380	chr6:50022472-50022473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532070171	chr6:50022483-50022484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551860133	chr6:50022488-50022489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34920142	chr6:50022495-50022496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529606053	chr6:50022497-50022498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372553009	chr6:50022501-50022502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568708694	chr6:50022558-50022559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543292948	chr6:50022624-50022625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12529462	chr6:50022625-50022626	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs559257360	chr6:50022634-50022635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532168590	chr6:50022674-50022675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568044812	chr6:50022675-50022676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534118449	chr6:50022676-50022677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370929641	chr6:50022679-50022680	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:50022400-50023600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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