Variant report

Variant	esv1010826
Chromosome Location	chr6:132104237-132108147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:132103911-132104271	K562	blood:	n/a	n/a
2	CTCF	chr6:132103861-132104273	HepG2	liver:	n/a	n/a
3	CTCF	chr6:132103981-132104258	K562	blood:	n/a	n/a
4	CTCF	chr6:132103944-132104241	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:132103998-132104247	A549	lung:	n/a	n/a
6	CTCF	chr6:132103803-132104390	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:132104140-132104290	NHEK	skin:	n/a	n/a
8	CTCF	chr6:132104100-132104250	GM06990	blood:	n/a	n/a
9	CTCF	chr6:132103903-132104283	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:132103784-132104345	HCT-116	colon:	n/a	n/a
11	CTCF	chr6:132103918-132104312	HCT-116	colon:	n/a	n/a
12	CTCF	chr6:132107510-132107531	GM13976	blood:	n/a	n/a
13	EP300	chr6:132108134-132108759	HepG2	liver:	n/a	chr6:132108371-132108381
14	FOXA1	chr6:132108095-132108711	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:132106853-132106856	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:132105831-132105833	Gliobla	brain:	n/a	n/a
17	RAD21	chr6:132103827-132104365	HepG2	liver:	n/a	n/a
18	RAD21	chr6:132103863-132104356	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr6:132103736-132104474	MCF-7	breast:	n/a	n/a
20	RAD21	chr6:132103781-132104429	MCF-7	breast:	n/a	n/a
21	RAD21	chr6:132103877-132104316	A549	lung:	n/a	n/a
22	RAD21	chr6:132103854-132104260	ECC-1	luminal epithelium:	n/a	n/a
23	RAD21	chr6:132103791-132104333	HCT-116	colon:	n/a	n/a
24	RAD21	chr6:132103997-132104331	A549	lung:	n/a	n/a
25	RAD21	chr6:132103788-132104429	HCT-116	colon:	n/a	n/a
26	RAD21	chr6:132103840-132104343	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr6:132103931-132104278	HepG2	liver:	n/a	n/a
28	RAD21	chr6:132104047-132104252	Hela-S3	cervix:	n/a	n/a
29	RAD21	chr6:132103917-132104281	H1-hESC	embryonic stem cell:	n/a	n/a
30	SMC3	chr6:132103900-132104260	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:132108018..132108845-chr6:132231190..132231765,2	MCF-7	breast:
2	chr6:132103712..132104887-chr6:132230700..132231763,6	MCF-7	breast:
3	chr6:132103548..132104555-chr6:132230578..132231823,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000216917	TF binding region

Extended variants
information (count: 152 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554864563	chr6:132104397-132104398	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs144162525	chr6:132104419-132104420	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs568218016	chr6:132104485-132104486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541661125	chr6:132104554-132104555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558911236	chr6:132104571-132104572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148498420	chr6:132104573-132104574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192231145	chr6:132104596-132104597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142826322	chr6:132104614-132104615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561323815	chr6:132104625-132104626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574910138	chr6:132104639-132104640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147266264	chr6:132104651-132104652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140861277	chr6:132104714-132104715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144733523	chr6:132104724-132104725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552443620	chr6:132104785-132104786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78976343	chr6:132104801-132104802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75262008	chr6:132104805-132104806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549469277	chr6:132104832-132104833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542192946	chr6:132104833-132104834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368688457	chr6:132104840-132104841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9402343	chr6:132104856-132104857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184589169	chr6:132104901-132104902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189861746	chr6:132104913-132104914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565648358	chr6:132104935-132104936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181456281	chr6:132104952-132104953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559191068	chr6:132104961-132104962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372484497	chr6:132104967-132104968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75451852	chr6:132104984-132104985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140563885	chr6:132104989-132104990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536796420	chr6:132104996-132104997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563576251	chr6:132105010-132105011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556712092	chr6:132105011-132105012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186049444	chr6:132105023-132105024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377545350	chr6:132105042-132105043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374334521	chr6:132105044-132105045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150052836	chr6:132105055-132105056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560331867	chr6:132105056-132105057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116131374	chr6:132105106-132105107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6904121	chr6:132105155-132105156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149027765	chr6:132105173-132105174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111277095	chr6:132105195-132105196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73537641	chr6:132105206-132105207	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115074526	chr6:132105218-132105219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528982144	chr6:132105226-132105227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375829715	chr6:132105250-132105251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369887101	chr6:132105281-132105282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188261155	chr6:132105300-132105301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565577388	chr6:132105309-132105310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539375840	chr6:132105325-132105326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527605323	chr6:132105362-132105363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113433833	chr6:132105413-132105414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132099800-132109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:132100400-132109400	Weak transcription	Aorta	Aorta
3	chr6:132100800-132105200	Weak transcription	Adipose Nuclei	Adipose
4	chr6:132102600-132104400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:132103600-132105200	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:132103800-132104400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:132104000-132104400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:132104200-132107400	Weak transcription	HepG2	liver
9	chr6:132105200-132105800	Enhancers	Adipose Nuclei	Adipose
10	chr6:132105200-132106200	Enhancers	Fetal Muscle Leg	muscle
11	chr6:132105400-132105800	Enhancers	Fetal Stomach	stomach
12	chr6:132105400-132106000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:132105400-132106200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:132105400-132106400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:132105600-132106200	Enhancers	HSMMtube	muscle
16	chr6:132105600-132106600	Enhancers	NHDF-Ad	bronchial
17	chr6:132105800-132106400	Enhancers	Fetal Muscle Trunk	muscle
18	chr6:132105800-132108600	Weak transcription	Adipose Nuclei	Adipose
19	chr6:132105800-132109000	Weak transcription	Fetal Stomach	stomach
20	chr6:132106000-132108000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:132106200-132107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr6:132106200-132108800	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:132106200-132109000	Weak transcription	HSMMtube	muscle
24	chr6:132106400-132107600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:132106400-132113000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:132106600-132107800	Weak transcription	NHDF-Ad	bronchial
27	chr6:132107400-132109600	Enhancers	HepG2	liver
28	chr6:132107600-132109800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:132107600-132110800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:132107800-132110800	Enhancers	NHDF-Ad	bronchial
31	chr6:132108000-132110600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:132108000-132111000	Enhancers	Muscle Satellite Cultured Cells	--

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