Variant report

Variant	esv1813515
Chromosome Location	chr6:141003701-141045961
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	chr6:141032327-141032490	K562	blood:	n/a	n/a
2	BHLHE40	chr6:141032530-141032747	GM12878	blood:	n/a	n/a
3	CCNT2	chr6:141006502-141006618	K562	blood:	n/a	n/a
4	CEBPB	chr6:141006378-141006630	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:141006465-141006576	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:141023864-141024001	HepG2	liver:	n/a	n/a
7	CEBPB	chr6:141019569-141019573	K562	blood:	n/a	n/a
8	CEBPB	chr6:141005694-141005708	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:141016160-141016310	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr6:141024209-141024258	Lung_OC	lung:	n/a	n/a
11	CTCF	chr6:141016240-141016390	HEK293	kidney:	n/a	n/a
12	CTCF	chr6:141015864-141015963	Medullo	brain:	n/a	n/a
13	CTCF	chr6:141016743-141016808	GM10248	blood:	n/a	n/a
14	CTCF	chr6:141016280-141016430	WI-38	lung:	n/a	n/a
15	CTCF	chr6:141016180-141016330	HepG2	liver:	n/a	n/a
16	CTCF	chr6:141004780-141004930	Caco-2	colon:	n/a	n/a
17	CTCF	chr6:141016300-141016450	GM12874	blood:	n/a	n/a
18	CUX1	chr6:141041967-141041977	GM12878	blood:	n/a	n/a
19	CUX1	chr6:141032467-141032689	GM12878	blood:	n/a	n/a
20	E2F4	chr6:141018658-141018659	MCF10A-Er-Src	breast:	n/a	n/a
21	EBF1	chr6:141032428-141032572	GM12878	blood:	n/a	n/a
22	EP300	chr6:141032472-141032672	GM12878	blood:	n/a	chr6:141032561-141032575
23	FOS	chr6:141032201-141032557	MCF10A-Er-Src	breast:	n/a	chr6:141032361-141032372 chr6:141032233-141032245 chr6:141032535-141032547 chr6:141032365-141032374
24	FOS	chr6:141032245-141032524	MCF10A-Er-Src	breast:	n/a	chr6:141032361-141032372 chr6:141032365-141032374
25	FOS	chr6:141032260-141032445	MCF10A-Er-Src	breast:	n/a	chr6:141032361-141032372 chr6:141032365-141032374
26	FOS	chr6:141032260-141032441	MCF10A-Er-Src	breast:	n/a	chr6:141032361-141032372 chr6:141032365-141032374
27	MAFF	chr6:141023550-141023799	HepG2	liver:	n/a	chr6:141023665-141023683
28	MAFK	chr6:141017806-141017856	HepG2	liver:	n/a	n/a
29	MAFK	chr6:141023518-141023794	HepG2	liver:	n/a	n/a
30	MAFK	chr6:141023494-141023848	HepG2	liver:	n/a	n/a
31	MAZ	chr6:141019598-141019705	HepG2	liver:	n/a	n/a
32	MYC	chr6:141028043-141028200	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr6:141005848-141005894	MCF10A-Er-Src	breast:	n/a	n/a
34	NFIC	chr6:141032309-141032834	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:141027607-141027623	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:141005054-141005216	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr6:141005070-141005121	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr6:141029593-141029706	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr6:141031588-141031912	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr6:141021059-141021144	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr6:141027527-141027606	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:141026478-141026480	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr6:141039149-141039390	Gliobla	brain:	n/a	n/a
44	RFX5	chr6:141020706-141020718	K562	blood:	n/a	n/a
45	SETDB1	chr6:141037291-141037821	U2OS	brain:	n/a	n/a
46	SPI1	chr6:141045823-141046045	GM12878	blood:	n/a	chr6:141045940-141045949
47	SPI1	chr6:141032474-141032662	K562	blood:	n/a	chr6:141032566-141032575 chr6:141032562-141032571 chr6:141032560-141032573 chr6:141032559-141032572
48	SPI1	chr6:141032362-141032810	HL-60	blood:	n/a	chr6:141032566-141032575 chr6:141032562-141032571 chr6:141032560-141032573 chr6:141032559-141032572
49	SPI1	chr6:141032306-141032779	HL-60	blood:	n/a	chr6:141032566-141032575 chr6:141032562-141032571 chr6:141032560-141032573 chr6:141032559-141032572
50	SPI1	chr6:141041776-141042018	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:140995862..140998424-chr6:141006767..141008386,2	K562	blood:
2	chr6:141043491..141046275-chr6:141049561..141051082,2	MCF-7	breast:
3	chr6:141041326..141043698-chr6:141051751..141054060,2	K562	blood:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4465	chr6:141004992-141005013	MIMAT0018992

Variant related genes	Relation type
MIR4465	TF binding region

Extended variants
information (count: 762 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:762 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55886044	chr6:141003701-141003702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113204214	chr6:141003714-141003715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577706021	chr6:141003816-141003817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75893785	chr6:141003826-141003827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545536256	chr6:141003888-141003889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560541796	chr6:141003921-141003922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55662331	chr6:141003924-141003925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527954956	chr6:141003956-141003957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549682700	chr6:141003958-141003959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561593487	chr6:141003966-141003967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531731763	chr6:141004001-141004002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550236753	chr6:141004028-141004029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571672884	chr6:141004036-141004037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371190447	chr6:141004061-141004062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538761932	chr6:141004089-141004090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374506879	chr6:141004096-141004097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551527821	chr6:141004106-141004107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12208640	chr6:141004124-141004125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12201517	chr6:141004131-141004132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537773967	chr6:141004145-141004146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12201523	chr6:141004166-141004167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557510874	chr6:141004176-141004177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577465621	chr6:141004180-141004181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12201573	chr6:141004201-141004202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534255006	chr6:141004211-141004212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553986631	chr6:141004215-141004216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11155120	chr6:141004236-141004237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9403200	chr6:141004271-141004272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9403201	chr6:141004306-141004307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183354823	chr6:141004316-141004317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71015687	chr6:141004341-141004342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186802885	chr6:141004347-141004348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555896579	chr6:141004350-141004351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149323595	chr6:141004351-141004352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191262989	chr6:141004382-141004383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143623794	chr6:141004386-141004387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183053259	chr6:141004395-141004396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9399331	chr6:141004400-141004401	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs561554056	chr6:141004401-141004402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532050759	chr6:141004405-141004406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543754218	chr6:141004406-141004407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116795862	chr6:141004407-141004408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188140256	chr6:141004425-141004426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547560479	chr6:141004430-141004431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565864861	chr6:141004434-141004435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527480416	chr6:141004436-141004437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548806782	chr6:141004447-141004448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567183496	chr6:141004462-141004463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527890190	chr6:141004466-141004467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12182236	chr6:141004485-141004486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Colorectal cancer	16272173	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
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
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140993200-141015400	Weak transcription	Placenta	Placenta
2	chr6:141004800-141005000	Enhancers	Esophagus	oesophagus
3	chr6:141006000-141006400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:141006000-141006600	Enhancers	HUVEC	blood vessel
5	chr6:141018600-141019200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:141029200-141030000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:141029200-141030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:141029200-141030400	Enhancers	Fetal Lung	lung
9	chr6:141029400-141029800	Enhancers	Brain Substantia Nigra	brain
10	chr6:141029400-141030000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:141029400-141030400	Enhancers	Fetal Stomach	stomach
12	chr6:141029600-141030000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:141029600-141030000	Enhancers	HSMMtube	muscle
14	chr6:141029600-141030200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:141029800-141030000	Enhancers	Fetal Heart	heart
16	chr6:141030600-141031200	Active TSS	Fetal Heart	heart
17	chr6:141032000-141033200	Enhancers	Primary B cells from cord blood	blood
18	chr6:141032600-141032800	Enhancers	GM12878-XiMat	blood
19	chr6:141038800-141039400	Enhancers	Ovary	ovary
20	chr6:141039000-141039200	Enhancers	Adipose Nuclei	Adipose
21	chr6:141039000-141039400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:141039200-141039400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:141041800-141042000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr6:141042000-141050600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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