Variant report

Variant	esv3415838
Chromosome Location	chr6:77452282-77485905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:77452711-77452954	GM12878	blood:	n/a	chr6:77452825-77452836 chr6:77452785-77452796 chr6:77452811-77452822
2	CCNT2	chr6:77478292-77478511	K562	blood:	n/a	n/a
3	CTCF	chr6:77464523-77464656	HepG2	liver:	n/a	n/a
4	CTCF	chr6:77464520-77464670	GM12874	blood:	n/a	n/a
5	CTCF	chr6:77464559-77464639	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:77462535-77462586	GM20000	blood:	n/a	n/a
7	E2F4	chr6:77485004-77485124	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr6:77466225-77466345	K562	blood:	n/a	n/a
9	FOS	chr6:77452698-77452937	MCF10A-Er-Src	breast:	n/a	chr6:77452809-77452820
10	FOS	chr6:77452677-77452989	MCF10A-Er-Src	breast:	n/a	chr6:77452809-77452820
11	FOS	chr6:77481841-77482041	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr6:77452619-77453039	HUVEC	blood vessel:	n/a	chr6:77452809-77452820
13	FOS	chr6:77481853-77482024	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr6:77481824-77482081	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr6:77452657-77452989	MCF10A-Er-Src	breast:	n/a	chr6:77452809-77452820
16	FOSL1	chr6:77452546-77453071	HCT-116	colon:	n/a	n/a
17	MAFK	chr6:77479458-77479672	HepG2	liver:	n/a	n/a
18	MYC	chr6:77462616-77462621	MCF-7	breast:	n/a	n/a
19	MYC	chr6:77480936-77481082	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr6:77462596-77462603	MCF-7	breast:	n/a	n/a
21	MYC	chr6:77452730-77452832	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr6:77471869-77471905	MCF10A-Er-Src	breast:	n/a	n/a
23	NFIC	chr6:77480754-77481461	ECC-1	luminal epithelium:	n/a	n/a
24	NFIC	chr6:77480689-77481304	ECC-1	luminal epithelium:	n/a	n/a
25	NR2F2	chr6:77454784-77455117	K562	blood:	n/a	n/a
26	NR2F2	chr6:77454716-77455178	K562	blood:	n/a	n/a
27	POLR2A	chr6:77483691-77483788	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr6:77481230-77481239	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr6:77463549-77463631	MCF-7	breast:	n/a	n/a
30	POLR2A	chr6:77472019-77472180	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:77468019-77468276	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:77469153-77469304	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:77463535-77463545	MCF-7	breast:	n/a	n/a
34	RAD21	chr6:77464497-77464657	HepG2	liver:	n/a	n/a
35	REST	chr6:77457332-77457383	PANC-1	pancreas:	n/a	n/a
36	REST	chr6:77484849-77485099	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr6:77484830-77485077	H1-hESC	embryonic stem cell:	n/a	n/a
38	STAT3	chr6:77481383-77481472	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr6:77463069-77463119	MCF10A-Er-Src	breast:	n/a	n/a
40	TFAP2A	chr6:77480785-77481473	Hela-S3	cervix:	n/a	n/a
41	TFAP2C	chr6:77480744-77481539	Hela-S3	cervix:	n/a	n/a
42	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	chr6:77484885-77485577	ENSG00000271945.1
2	lnc-MYO6-3	chr6:77484704-77484792	XLOC_005355
3	lnc-MYO6-3	chr6:77484885-77484983	XLOC_005355
4	lnc-MYO6-3	chr6:77484711-77484792	XLOC_005355
5	lnc-MYO6-3	chr6:77484885-77485380	XLOC_005355
6	lnc-MYO6-3	chr6:77484885-77484983	XLOC_005355
7	lnc-MYO6-3	chr6:77484700-77484792	ENSG00000271945.1
8	lnc-MYO6-3	chr6:77484704-77484792	XLOC_005355

No data

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

Extended variants
information (count: 1707 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1707 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552994248	chr6:77452292-77452293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577853989	chr6:77452309-77452310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149752669	chr6:77452316-77452317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369687636	chr6:77452342-77452343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563939840	chr6:77452343-77452344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1563658	chr6:77452405-77452406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs145646485	chr6:77452413-77452414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190716969	chr6:77452446-77452447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9447775	chr6:77452454-77452455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148471467	chr6:77452594-77452595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142618774	chr6:77452611-77452612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147614242	chr6:77452614-77452615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533436268	chr6:77452695-77452696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369966790	chr6:77452768-77452769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9447776	chr6:77452779-77452780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142476721	chr6:77452803-77452804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9447777	chr6:77452804-77452805	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555541382	chr6:77452861-77452862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567415053	chr6:77452869-77452870	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534833216	chr6:77452887-77452888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146525810	chr6:77452915-77452916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577992821	chr6:77452926-77452927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370328443	chr6:77453004-77453005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115663052	chr6:77453005-77453006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183294568	chr6:77453010-77453011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114083236	chr6:77453014-77453015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372965723	chr6:77453016-77453017	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73759170	chr6:77453023-77453024	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188024873	chr6:77453116-77453117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540357417	chr6:77453153-77453154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189805432	chr6:77453206-77453207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564234334	chr6:77453207-77453208	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76112571	chr6:77453275-77453276	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550312331	chr6:77453295-77453296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563958779	chr6:77453317-77453318	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202154121	chr6:77453347-77453348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13220576	chr6:77453356-77453357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13220579	chr6:77453361-77453362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182757646	chr6:77453387-77453388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552511858	chr6:77453413-77453414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531153186	chr6:77453459-77453460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374294819	chr6:77453464-77453465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7738091	chr6:77453473-77453474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62433419	chr6:77453517-77453518	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs62433420	chr6:77453529-77453530	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs375506988	chr6:77453553-77453554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9350670	chr6:77453569-77453570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9350671	chr6:77453586-77453587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571666485	chr6:77453604-77453605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374813321	chr6:77453608-77453609	ZNF genes & repeats 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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77441000-77452800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:77452400-77470200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:77452800-77454400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr6:77454400-77456400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:77462400-77463000	Weak transcription	Aorta	Aorta
6	chr6:77463000-77463600	ZNF genes & repeats	Aorta	Aorta
7	chr6:77463400-77463800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:77470200-77470600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:77470600-77484600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:77474800-77478200	Weak transcription	Left Ventricle	heart
11	chr6:77477200-77477600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr6:77477600-77478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:77478000-77481400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:77478200-77479200	Enhancers	Left Ventricle	heart
15	chr6:77478200-77479200	Enhancers	Ovary	ovary
16	chr6:77478200-77479600	Enhancers	Stomach Mucosa	stomach
17	chr6:77478400-77479200	Enhancers	Placenta	Placenta
18	chr6:77478400-77479200	Enhancers	Right Ventricle	heart
19	chr6:77478400-77479200	Enhancers	Spleen	Spleen
20	chr6:77478400-77479800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:77478800-77479000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:77479000-77479200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:77479200-77479400	Enhancers	Fetal Heart	heart
24	chr6:77479200-77480200	Weak transcription	Ovary	ovary
25	chr6:77479200-77480600	Weak transcription	Placenta	Placenta
26	chr6:77479200-77480800	Weak transcription	Left Ventricle	heart
27	chr6:77479200-77481200	Weak transcription	Right Ventricle	heart
28	chr6:77479200-77483400	Weak transcription	Spleen	Spleen
29	chr6:77479400-77480400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:77479400-77480400	Weak transcription	Fetal Heart	heart
31	chr6:77479600-77480000	Weak transcription	Stomach Mucosa	stomach
32	chr6:77479800-77484200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:77480000-77480800	Enhancers	Duodenum Mucosa	Duodenum
34	chr6:77480000-77481400	Enhancers	Stomach Mucosa	stomach
35	chr6:77480200-77481000	Enhancers	Ovary	ovary
36	chr6:77480400-77481800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:77480400-77482200	Enhancers	Fetal Heart	heart
38	chr6:77480600-77481200	Enhancers	HUVEC	blood vessel
39	chr6:77480600-77483000	Enhancers	Placenta	Placenta
40	chr6:77480800-77481000	Enhancers	Gastric	stomach
41	chr6:77480800-77481400	Enhancers	Colon Smooth Muscle	Colon
42	chr6:77480800-77481400	Enhancers	Pancreas	Pancrea
43	chr6:77480800-77481400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr6:77480800-77481800	Enhancers	Left Ventricle	heart
45	chr6:77480800-77483200	Enhancers	HMEC	breast
46	chr6:77481000-77481200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:77481000-77483600	Weak transcription	Ovary	ovary
48	chr6:77481000-77486800	Weak transcription	Gastric	stomach
49	chr6:77481200-77481600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:77481200-77482000	Enhancers	Right Ventricle	heart

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