Variant report

Variant	esv3387784
Chromosome Location	chr6:132696959-132698957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr6:132696954-132697000	H1-hESC	embryonic stem cell:	n/a	n/a
2	STAT3	chr6:132696933-132697411	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132697112-132697162	HIPEpiC	eye:	n/a
2	chr6:132697112-132697162	AG04449	skin:	fetal
3	chr6:132697112-132697162	AG09309	skin:	n/a
4	chr6:132697112-132697162	ProgFib	skin:	n/a
5	chr6:132697112-132697162	HEEpiC	esophagus:	n/a
6	chr6:132697112-132697162	HRCEpiC	kidney:	n/a
7	chr6:132697112-132697162	HUVEC	blood vessel:	n/a
8	chr6:132697112-132697162	GM19239	blood:	n/a
9	chr6:132697112-132697162	HL-60	blood:	n/a
10	chr6:132697112-132697162	MCF-7	breast:	n/a
11	chr6:132697112-132697162	AG04450	lung:	fetal
12	chr6:132697112-132697162	HAEpiC	amniotic membrane:	n/a
13	chr6:132697112-132697162	Hepatocyte	liver:	n/a
14	chr6:132697112-132697162	ovcar-3	ovarian:	n/a
15	chr6:132697112-132697162	NB4	blood:	n/a
16	chr6:132697112-132697162	SKMC	muscle:	n/a
17	chr6:132697112-132697162	HMEC	breast:	n/a
18	chr6:132697112-132697162	U87	brain:	n/a
19	chr6:132697112-132697162	K562	blood:	n/a
20	chr6:132697112-132697162	NHDF-neo	bronchial:	n/a
21	chr6:132697112-132697162	SK-N-SH_RA	brain:	n/a
22	chr6:132697112-132697162	NT2-D1	testis:	n/a
23	chr6:132697112-132697162	GM12891	blood:	n/a
24	chr6:132697112-132697162	PFSK-1	brain:	n/a
25	chr6:132697112-132697162	HEK293	kidney:	embryo
26	chr6:132697112-132697162	NHBE	bronchial:	n/a
27	chr6:132697112-132697162	HPAEpiC	pulmonary alveolar:	n/a
28	chr6:132697112-132697162	PrEC	prostate:	n/a
29	chr6:132697112-132697162	AoSMC	blood vessel:	n/a
30	chr6:132697112-132697162	HNPCEpiC	eye:	n/a
31	chr6:132697112-132697162	BE2_C	brain:	n/a
32	chr6:132697112-132697162	HCF	heart:	n/a
33	chr6:132697112-132697162	A549	lung:	n/a
34	chr6:132697112-132697162	MCF10A-Er-Src	breast:	n/a
35	chr6:132697112-132697162	HRE	kidney:	n/a
36	chr6:132697112-132697162	AG10803	skin:	n/a
37	chr6:132697112-132697162	NH-A	brain:	n/a
38	chr6:132697112-132697162	Jurkat	blood:	n/a
39	chr6:132697112-132697162	HCM	heart:	n/a
40	chr6:132697112-132697162	GM12892	blood:	n/a
41	chr6:132697112-132697162	Hela-S3	cervix:	n/a
42	chr6:132697112-132697162	LNCaP	prostate:	n/a
43	chr6:132697112-132697162	RPTEC	kidney:	n/a
44	chr6:132697112-132697162	SK-N-MC	brain:	n/a
45	chr6:132697112-132697162	SAEC	small airway:	n/a
46	chr6:132697112-132697162	HRPEpiC	eye:	n/a
47	chr6:132697112-132697162	SK-N-SH	brain:	n/a
48	chr6:132697112-132697162	GM06990	blood:	n/a
49	chr6:132697112-132697162	AG09319	gingival:	n/a
50	chr6:132697112-132697162	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
MOXD1	TF binding region
MOXD1	CpG island

Extended variants
information (count: 72 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75923268	chr6:132696972-132696973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs188798436	chr6:132696993-132696994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181481402	chr6:132697003-132697004	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560200477	chr6:132697058-132697059	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532196544	chr6:132697068-132697069	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs546028562	chr6:132697091-132697092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572640840	chr6:132697118-132697119	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs543230654	chr6:132697132-132697133	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs138760397	chr6:132697143-132697144	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs548520843	chr6:132697152-132697153	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs9321340	chr6:132697212-132697213	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527690072	chr6:132697261-132697262	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs547534454	chr6:132697284-132697285	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115336429	chr6:132697290-132697291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs9388988	chr6:132697312-132697313	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556750387	chr6:132697357-132697358	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs543494656	chr6:132697362-132697363	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563982269	chr6:132697400-132697401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs145840788	chr6:132697491-132697492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555641556	chr6:132697494-132697495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574053036	chr6:132697498-132697499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565242814	chr6:132697503-132697504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9388989	chr6:132697582-132697583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs541099932	chr6:132697625-132697626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111950992	chr6:132697643-132697644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185973243	chr6:132697673-132697674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545665825	chr6:132697692-132697693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562640492	chr6:132697807-132697808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529463386	chr6:132697809-132697810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112363749	chr6:132697826-132697827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190091741	chr6:132697894-132697895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181433639	chr6:132697920-132697921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527675658	chr6:132697948-132697949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547797714	chr6:132697949-132697950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570841533	chr6:132697950-132697951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533429508	chr6:132697951-132697952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549882662	chr6:132697968-132697969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569866994	chr6:132697969-132697970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535660842	chr6:132697970-132697971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75218918	chr6:132698000-132698001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566408052	chr6:132698022-132698023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138403662	chr6:132698071-132698072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553767922	chr6:132698086-132698087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114541818	chr6:132698091-132698092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185899774	chr6:132698170-132698171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556298000	chr6:132698196-132698197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529866906	chr6:132698257-132698258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543267415	chr6:132698311-132698312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542086903	chr6:132698333-132698334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561960621	chr6:132698355-132698356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132677400-132701200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:132692000-132701200	Weak transcription	Osteobl	bone
4	chr6:132692200-132698400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:132692600-132709200	Weak transcription	Fetal Kidney	kidney
6	chr6:132693200-132709400	Weak transcription	Fetal Lung	lung
7	chr6:132693400-132697400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:132694200-132699600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:132694400-132705400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:132694600-132705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:132694800-132699200	Weak transcription	NHDF-Ad	bronchial
12	chr6:132698400-132699200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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