Variant report

Variant	esv3448552
Chromosome Location	chr6:77461282-77485905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr6:77478292-77478511	K562	blood:	n/a	n/a
2	CTCF	chr6:77462535-77462586	GM20000	blood:	n/a	n/a
3	CTCF	chr6:77464520-77464670	GM12874	blood:	n/a	n/a
4	CTCF	chr6:77464523-77464656	HepG2	liver:	n/a	n/a
5	CTCF	chr6:77464559-77464639	MCF-7	breast:	n/a	n/a
6	E2F4	chr6:77485004-77485124	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr6:77466225-77466345	K562	blood:	n/a	n/a
8	FOS	chr6:77481824-77482081	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:77481853-77482024	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr6:77481841-77482041	MCF10A-Er-Src	breast:	n/a	n/a
11	MAFK	chr6:77479458-77479672	HepG2	liver:	n/a	n/a
12	MYC	chr6:77471869-77471905	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr6:77480936-77481082	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr6:77462616-77462621	MCF-7	breast:	n/a	n/a
15	MYC	chr6:77462596-77462603	MCF-7	breast:	n/a	n/a
16	NFIC	chr6:77480754-77481461	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr6:77480689-77481304	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr6:77481230-77481239	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr6:77463549-77463631	MCF-7	breast:	n/a	n/a
20	POLR2A	chr6:77463535-77463545	MCF-7	breast:	n/a	n/a
21	POLR2A	chr6:77468019-77468276	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:77472019-77472180	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr6:77469153-77469304	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr6:77483691-77483788	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr6:77464497-77464657	HepG2	liver:	n/a	n/a
26	REST	chr6:77484849-77485099	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr6:77484830-77485077	H1-hESC	embryonic stem cell:	n/a	n/a
28	STAT3	chr6:77481383-77481472	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr6:77463069-77463119	MCF10A-Er-Src	breast:	n/a	n/a
30	TFAP2A	chr6:77480785-77481473	Hela-S3	cervix:	n/a	n/a
31	TFAP2C	chr6:77480744-77481539	Hela-S3	cervix:	n/a	n/a
32	WRNIP1	chr6:77462362-77462432	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:77464445..77465326-chr7:1518971..1519642,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO6-3	chr6:77484704-77484792	XLOC_005355
2	lnc-MYO6-3	chr6:77484885-77485380	XLOC_005355
3	lnc-MYO6-3	chr6:77484885-77485577	ENSG00000271945.1
4	lnc-MYO6-3	chr6:77484700-77484792	ENSG00000271945.1
5	lnc-MYO6-3	chr6:77484885-77484983	XLOC_005355
6	lnc-MYO6-3	chr6:77484885-77484983	XLOC_005355
7	lnc-MYO6-3	chr6:77484711-77484792	XLOC_005355
8	lnc-MYO6-3	chr6:77484704-77484792	XLOC_005355

No data

Variant related genes	Relation type
ENSG00000271945	TF binding region
PBRM1	miRNA target sites
CSTF2	miRNA target sites
IFT80	miRNA target sites

Extended variants
information (count: 1123 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1123 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73759173	chr6:77461337-77461338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147778162	chr6:77461338-77461339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537456438	chr6:77461366-77461367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72176638	chr6:77461397-77461398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138627327	chr6:77461398-77461399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75795421	chr6:77461400-77461401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1841756	chr6:77461403-77461404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs398049070	chr6:77461406-77461407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368073394	chr6:77461443-77461444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149915303	chr6:77461451-77461452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199542880	chr6:77461452-77461453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201703420	chr6:77461454-77461455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143427530	chr6:77461491-77461492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184790272	chr6:77461509-77461510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188081397	chr6:77461554-77461555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527443751	chr6:77461568-77461569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561564055	chr6:77461589-77461590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148062845	chr6:77461601-77461602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114615371	chr6:77461620-77461621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565395954	chr6:77461628-77461629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12208150	chr6:77461660-77461661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9361127	chr6:77461669-77461670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73759174	chr6:77461682-77461683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73759175	chr6:77461697-77461698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114364609	chr6:77461710-77461711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566631820	chr6:77461770-77461771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140857660	chr6:77461818-77461819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180980198	chr6:77461820-77461821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73759176	chr6:77461827-77461828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9359221	chr6:77461864-77461865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34317226	chr6:77461890-77461891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148599121	chr6:77461915-77461916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141300774	chr6:77461916-77461917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71561500	chr6:77461919-77461920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536320350	chr6:77461928-77461929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77657240	chr6:77461930-77461931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558901101	chr6:77461935-77461936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61004700	chr6:77461941-77461942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554987974	chr6:77461942-77461943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150152728	chr6:77461956-77461957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35744814	chr6:77461960-77461961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559088974	chr6:77461983-77461984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577452585	chr6:77461995-77461996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374186524	chr6:77462004-77462005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191233686	chr6:77462006-77462007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562926325	chr6:77462025-77462026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138658398	chr6:77462037-77462038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs36101500	chr6:77462057-77462058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35401263	chr6:77462064-77462065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397887457	chr6:77462066-77462067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:77462400-77463000	Weak transcription	Aorta	Aorta
3	chr6:77463000-77463600	ZNF genes & repeats	Aorta	Aorta
4	chr6:77463400-77463800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:77470200-77470600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:77470600-77484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:77474800-77478200	Weak transcription	Left Ventricle	heart
8	chr6:77477200-77477600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:77477600-77478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:77478000-77481400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:77478200-77479200	Enhancers	Left Ventricle	heart
12	chr6:77478200-77479200	Enhancers	Ovary	ovary
13	chr6:77478200-77479600	Enhancers	Stomach Mucosa	stomach
14	chr6:77478400-77479200	Enhancers	Placenta	Placenta
15	chr6:77478400-77479200	Enhancers	Right Ventricle	heart
16	chr6:77478400-77479200	Enhancers	Spleen	Spleen
17	chr6:77478400-77479800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:77478800-77479000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:77479000-77479200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:77479200-77479400	Enhancers	Fetal Heart	heart
21	chr6:77479200-77480200	Weak transcription	Ovary	ovary
22	chr6:77479200-77480600	Weak transcription	Placenta	Placenta
23	chr6:77479200-77480800	Weak transcription	Left Ventricle	heart
24	chr6:77479200-77481200	Weak transcription	Right Ventricle	heart
25	chr6:77479200-77483400	Weak transcription	Spleen	Spleen
26	chr6:77479400-77480400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:77479400-77480400	Weak transcription	Fetal Heart	heart
28	chr6:77479600-77480000	Weak transcription	Stomach Mucosa	stomach
29	chr6:77479800-77484200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:77480000-77480800	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:77480000-77481400	Enhancers	Stomach Mucosa	stomach
32	chr6:77480200-77481000	Enhancers	Ovary	ovary
33	chr6:77480400-77481800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:77480400-77482200	Enhancers	Fetal Heart	heart
35	chr6:77480600-77481200	Enhancers	HUVEC	blood vessel
36	chr6:77480600-77483000	Enhancers	Placenta	Placenta
37	chr6:77480800-77481000	Enhancers	Gastric	stomach
38	chr6:77480800-77481400	Enhancers	Colon Smooth Muscle	Colon
39	chr6:77480800-77481400	Enhancers	Pancreas	Pancrea
40	chr6:77480800-77481400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:77480800-77481800	Enhancers	Left Ventricle	heart
42	chr6:77480800-77483200	Enhancers	HMEC	breast
43	chr6:77481000-77481200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:77481000-77483600	Weak transcription	Ovary	ovary
45	chr6:77481000-77486800	Weak transcription	Gastric	stomach
46	chr6:77481200-77481600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr6:77481200-77482000	Enhancers	Right Ventricle	heart
48	chr6:77481400-77481600	Weak transcription	Stomach Mucosa	stomach
49	chr6:77481400-77482400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:77481400-77484000	Weak transcription	Pancreas	Pancrea

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