Variant report

Variant	esv3449955
Chromosome Location	chr6:144452509-144454707
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	ATF1	chr6:144452563-144452753	K562	blood:	n/a	n/a
2	BATF	chr6:144452518-144452909	GM12878	blood:	n/a	n/a
3	BCL11A	chr6:144452482-144452860	GM12878	blood:	n/a	n/a
4	CBX3	chr6:144452357-144452967	HCT-116	colon:	n/a	n/a
5	CEBPB	chr6:144452325-144452939	HCT-116	colon:	n/a	n/a
6	CEBPB	chr6:144452399-144452818	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr6:144452447-144452854	A549	lung:	n/a	n/a
8	E2F4	chr6:144452431-144452748	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr6:144452534-144452802	GM12878	blood:	n/a	n/a
10	EP300	chr6:144452410-144452680	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr6:144452443-144452811	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr6:144452183-144452863	SK-N-SH	brain:	n/a	n/a
13	EP300	chr6:144452312-144452761	Hela-S3	cervix:	n/a	n/a
14	ESR1	chr6:144452475-144452759	ECC-1	luminal epithelium:	n/a	n/a
15	FOS	chr6:144452376-144452866	MCF10A-Er-Src	breast:	n/a	chr6:144452552-144452560
16	FOS	chr6:144452347-144452861	MCF10A-Er-Src	breast:	n/a	chr6:144452552-144452560
17	FOS	chr6:144452366-144452856	MCF10A-Er-Src	breast:	n/a	chr6:144452552-144452560
18	FOS	chr6:144452332-144452917	MCF10A-Er-Src	breast:	n/a	chr6:144452552-144452560
19	FOS	chr6:144452188-144452868	HUVEC	blood vessel:	n/a	chr6:144452552-144452560
20	FOSL1	chr6:144452145-144452916	HCT-116	colon:	n/a	chr6:144452552-144452560
21	FOSL1	chr6:144452140-144453056	HCT-116	colon:	n/a	chr6:144452552-144452560
22	FOSL2	chr6:144452354-144452870	MCF-7	breast:	n/a	chr6:144452552-144452560
23	FOSL2	chr6:144452352-144452835	SK-N-SH	brain:	n/a	chr6:144452552-144452560
24	FOSL2	chr6:144452266-144452912	SK-N-SH	brain:	n/a	chr6:144452552-144452560
25	FOSL2	chr6:144452281-144452885	A549	lung:	n/a	chr6:144452552-144452560
26	FOSL2	chr6:144452436-144452773	A549	lung:	n/a	chr6:144452552-144452560
27	GATA3	chr6:144452339-144452958	SK-N-SH	brain:	n/a	chr6:144452550-144452559 chr6:144452353-144452361
28	GATA3	chr6:144454259-144454818	MCF-7	breast:	n/a	n/a
29	GATA3	chr6:144452207-144452907	SK-N-SH	brain:	n/a	chr6:144452550-144452559 chr6:144452353-144452361
30	GATA3	chr6:144452360-144452861	A549	lung:	n/a	chr6:144452550-144452559
31	JUN	chr6:144452421-144452812	Hela-S3	cervix:	n/a	chr6:144452552-144452560
32	JUN	chr6:144452392-144452843	HUVEC	blood vessel:	n/a	chr6:144452552-144452560
33	JUND	chr6:144452321-144452813	Hela-S3	cervix:	n/a	chr6:144452607-144452618 chr6:144452552-144452560
34	JUND	chr6:144452110-144452926	HCT-116	colon:	n/a	chr6:144452607-144452618 chr6:144452552-144452560
35	JUND	chr6:144452208-144452918	SK-N-SH	brain:	n/a	chr6:144452552-144452560 chr6:144452607-144452618
36	JUND	chr6:144452021-144452882	SK-N-SH	brain:	n/a	chr6:144452607-144452618 chr6:144452552-144452560
37	JUND	chr6:144452348-144452915	SK-N-SH	brain:	n/a	chr6:144452607-144452618 chr6:144452552-144452560
38	JUND	chr6:144452504-144452640	HepG2	liver:	n/a	chr6:144452607-144452618 chr6:144452552-144452560
39	JUND	chr6:144452220-144452987	HCT-116	colon:	n/a	chr6:144452607-144452618 chr6:144452552-144452560
40	MAFF	chr6:144454633-144454821	HepG2	liver:	n/a	chr6:144454748-144454766
41	MAFK	chr6:144454588-144454902	HepG2	liver:	n/a	chr6:144454749-144454764 chr6:144454744-144454764 chr6:144454747-144454761 chr6:144454746-144454762
42	MAFK	chr6:144454587-144454787	HepG2	liver:	n/a	chr6:144454749-144454764 chr6:144454744-144454764 chr6:144454747-144454761 chr6:144454746-144454762
43	MAFK	chr6:144452403-144452768	Hela-S3	cervix:	n/a	chr6:144452469-144452480
44	MYC	chr6:144452456-144452842	MCF10A-Er-Src	breast:	n/a	n/a
45	MYC	chr6:144452402-144452869	MCF10A-Er-Src	breast:	n/a	n/a
46	NFATC1	chr6:144452359-144452885	GM12878	blood:	n/a	n/a
47	NFIC	chr6:144452270-144452930	ECC-1	luminal epithelium:	n/a	n/a
48	NFIC	chr6:144452329-144453025	GM12878	blood:	n/a	n/a
49	NFIC	chr6:144452238-144452886	SK-N-SH	brain:	n/a	n/a
50	PBX3	chr6:144452263-144452862	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144446176..144448391-chr6:144449914..144452530,2	MCF-7	breast:

Variant related genes	Relation type
MRPL42P3	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557945858	chr6:144452513-144452514	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566758343	chr6:144452530-144452531	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181394524	chr6:144452542-144452543	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555680238	chr6:144452546-144452547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs76513315	chr6:144452558-144452559	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4463275	chr6:144452571-144452572	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574368013	chr6:144452649-144452650	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs578058604	chr6:144452672-144452673	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184471876	chr6:144452700-144452701	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560370170	chr6:144452733-144452734	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs527532876	chr6:144452762-144452763	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571423751	chr6:144452812-144452813	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542935481	chr6:144452838-144452839	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577600539	chr6:144452850-144452851	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561178982	chr6:144452851-144452852	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs149161575	chr6:144452945-144452946	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189326416	chr6:144452948-144452949	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs202018629	chr6:144453003-144453004	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs386706604	chr6:144453137-144453138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs990308	chr6:144453138-144453139	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146718865	chr6:144453150-144453151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556529974	chr6:144453154-144453155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576807283	chr6:144453156-144453157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547136814	chr6:144453167-144453168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141344233	chr6:144453197-144453198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139329200	chr6:144453201-144453202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71546214	chr6:144453204-144453205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200826209	chr6:144453207-144453208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140325684	chr6:144453220-144453221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77794624	chr6:144453236-144453237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534132091	chr6:144453238-144453239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118128898	chr6:144453262-144453263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567968816	chr6:144453270-144453271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545834740	chr6:144453309-144453310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180869060	chr6:144453320-144453321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537815990	chr6:144453321-144453322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556502947	chr6:144453341-144453342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186062875	chr6:144453362-144453363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539135395	chr6:144453368-144453369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375027974	chr6:144453419-144453420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559190064	chr6:144453441-144453442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35997492	chr6:144453446-144453447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13220400	chr6:144453535-144453536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13220402	chr6:144453540-144453541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11758194	chr6:144453618-144453619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9496875	chr6:144453626-144453627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9403550	chr6:144453661-144453662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572232977	chr6:144453689-144453690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531224663	chr6:144453694-144453695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199555998	chr6:144453699-144453700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144451000-144453000	Enhancers	HMEC	breast
2	chr6:144451200-144453000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:144451200-144453000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr6:144451200-144453000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:144451200-144460400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:144451600-144453000	Enhancers	GM12878-XiMat	blood
7	chr6:144451800-144452600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr6:144451800-144453000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:144451800-144453000	Enhancers	NHDF-Ad	bronchial
10	chr6:144451800-144453000	Enhancers	Osteobl	bone
11	chr6:144451800-144453200	Enhancers	HUVEC	blood vessel
12	chr6:144452000-144452600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:144452000-144452600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:144452000-144452600	Flanking Active TSS	NHEK	skin
15	chr6:144452000-144453000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:144452000-144453000	Enhancers	NH-A	brain
17	chr6:144452000-144453200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:144452000-144453200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:144452200-144452800	Enhancers	A549	lung
20	chr6:144452400-144452600	Enhancers	Hela-S3	cervix
21	chr6:144452400-144453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:144452400-144453200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:144452400-144456200	Weak transcription	NHLF	lung
24	chr6:144452600-144453000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:144452600-144453000	Enhancers	NHEK	skin
26	chr6:144453000-144454600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:144453000-144455200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:144453000-144455200	Weak transcription	NHDF-Ad	bronchial
29	chr6:144453000-144455200	Weak transcription	Osteobl	bone
30	chr6:144453000-144458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:144453200-144453600	Weak transcription	HUVEC	blood vessel
32	chr6:144453200-144455200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:144453200-144455400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:144453600-144456200	Enhancers	HUVEC	blood vessel
35	chr6:144454400-144454600	Enhancers	HepG2	liver
36	chr6:144454600-144455400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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