Variant report

Variant	esv3386499
Chromosome Location	chr6:117779859-117781657
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	chr6:117780685-117780927	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:117780631-117780981	IMR90	lung:	n/a	chr6:117780793-117780804
3	CEBPB	chr6:117780505-117781069	A549	lung:	n/a	chr6:117780793-117780804
4	CEBPB	chr6:117780519-117781086	MCF-7	breast:	n/a	chr6:117780793-117780804
5	CEBPB	chr6:117780608-117780935	K562	blood:	n/a	chr6:117780793-117780804
6	CEBPB	chr6:117780679-117781047	MCF-7	breast:	n/a	chr6:117780793-117780804
7	CEBPB	chr6:117780645-117781150	A549	lung:	n/a	chr6:117780793-117780804
8	CEBPB	chr6:117780623-117780959	K562	blood:	n/a	chr6:117780793-117780804
9	CEBPB	chr6:117780648-117780954	Hela-S3	cervix:	n/a	chr6:117780793-117780804
10	CEBPB	chr6:117780630-117780983	HepG2	liver:	n/a	chr6:117780793-117780804
11	CTCF	chr6:117780860-117781010	HepG2	liver:	n/a	n/a
12	CTCF	chr6:117780877-117780920	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:117780867-117780869	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:117780855-117780944	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr6:117780760-117780910	HEK293	kidney:	n/a	n/a
16	CTCF	chr6:117780870-117780928	MCF-7	breast:	n/a	n/a
17	EP300	chr6:117780268-117780587	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr6:117780197-117780605	SK-N-SH_RA	brain:	n/a	n/a
19	GATA3	chr6:117780426-117781031	MCF-7	breast:	n/a	n/a
20	GATA3	chr6:117780577-117781095	MCF-7	breast:	n/a	n/a
21	MAFF	chr6:117781018-117781082	HepG2	liver:	n/a	chr6:117781028-117781046
22	MAFK	chr6:117780971-117781145	HepG2	liver:	n/a	n/a
23	PBX3	chr6:117780259-117780639	SK-N-SH	brain:	n/a	n/a
24	STAT3	chr6:117781044-117781244	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:117779054..117781463-chr6:117894101..117895608,2	K562	blood:
2	chr6:117779599..117781620-chr6:117784627..117786769,2	K562	blood:
3	chr6:117774730..117776749-chr6:117778089..117780267,2	K562	blood:
4	chr6:117778227..117782608-chr6:117922454..117926248,4	MCF-7	breast:

Variant related genes	Relation type
RNU6-253P	TF binding region
ENSG00000164465	chromatin interactions
ENSG00000047932	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 115 )

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	rs9489200	chr6:117779888-117779889	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549435363	chr6:117779925-117779926	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs567515845	chr6:117780034-117780035	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140721206	chr6:117780037-117780038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556274094	chr6:117780060-117780061	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184333721	chr6:117780085-117780086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs17079228	chr6:117780089-117780090	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371852731	chr6:117780101-117780102	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs144456804	chr6:117780104-117780105	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34713886	chr6:117780118-117780119	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs568274325	chr6:117780124-117780125	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542183573	chr6:117780145-117780146	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs2180811	chr6:117780158-117780159	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs189566855	chr6:117780233-117780234	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs544588489	chr6:117780236-117780237	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs551201063	chr6:117780241-117780242	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs563238664	chr6:117780249-117780250	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs569429617	chr6:117780255-117780256	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs146613374	chr6:117780273-117780274	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540161037	chr6:117780291-117780292	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs191615900	chr6:117780296-117780297	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560555243	chr6:117780300-117780301	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs527801035	chr6:117780303-117780304	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549368790	chr6:117780322-117780323	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149182047	chr6:117780367-117780368	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143332778	chr6:117780381-117780382	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs17573703	chr6:117780426-117780427	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183847486	chr6:117780465-117780466	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555910139	chr6:117780506-117780507	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566921512	chr6:117780537-117780538	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs565409739	chr6:117780545-117780546	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574228205	chr6:117780549-117780550	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs146855916	chr6:117780555-117780556	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs370608453	chr6:117780556-117780557	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373981881	chr6:117780557-117780558	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs377057081	chr6:117780558-117780559	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs370105940	chr6:117780559-117780560	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs188621761	chr6:117780561-117780562	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs61504354	chr6:117780612-117780613	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201982653	chr6:117780619-117780620	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199910534	chr6:117780621-117780622	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs138332035	chr6:117780657-117780658	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs554509487	chr6:117780680-117780681	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs75738384	chr6:117780694-117780695	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543455356	chr6:117780709-117780710	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148015406	chr6:117780722-117780723	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181366690	chr6:117780741-117780742	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs186998254	chr6:117780744-117780745	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs190379261	chr6:117780760-117780761	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182506110	chr6:117780761-117780762	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117780400-117781000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:117781000-117785000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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