Variant report

Variant	esv1797172
Chromosome Location	chr6:65342354-65382261
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	BACH1	chr6:65376528-65376582	K562	blood:	n/a	n/a
2	CCNT2	chr6:65382053-65382189	K562	blood:	n/a	n/a
3	CEBPB	chr6:65382004-65382269	K562	blood:	n/a	n/a
4	CEBPB	chr6:65382070-65382721	IMR90	lung:	n/a	chr6:65382550-65382559 chr6:65382550-65382559 chr6:65382550-65382559
5	CTCF	chr6:65351061-65351093	GM13977	blood:	n/a	n/a
6	E2F4	chr6:65356772-65356973	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr6:65354041-65354187	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA2	chr6:65358013-65358236	HUVEC	blood vessel:	n/a	chr6:65358045-65358059
9	GATA2	chr6:65357944-65358231	SH-SY5Y	brain:	n/a	chr6:65358045-65358059
10	GATA3	chr6:65357949-65358233	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr6:65357832-65358284	MCF-7	breast:	n/a	n/a
12	JUN	chr6:65374938-65375094	K562	blood:	n/a	n/a
13	JUND	chr6:65353976-65354223	HepG2	liver:	n/a	n/a
14	JUND	chr6:65353953-65354297	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAFF	chr6:65359204-65359225	HepG2	liver:	n/a	n/a
16	MAFK	chr6:65362545-65362810	HepG2	liver:	n/a	n/a
17	MAFK	chr6:65359057-65359221	HepG2	liver:	n/a	chr6:65359189-65359205 chr6:65359188-65359202
18	POLR2A	chr6:65379893-65380087	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr6:65361322-65361433	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr6:65374716-65374909	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr6:65357474-65357674	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr6:65373871-65373898	Gliobla	brain:	n/a	n/a
23	POLR2A	chr6:65376329-65376509	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr6:65359241-65359415	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr6:65366269-65366325	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:65359246-65359379	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:65360368-65360568	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr6:65373935-65373954	Gliobla	brain:	n/a	n/a
29	REST	chr6:65344309-65344702	ECC-1	luminal epithelium:	n/a	chr6:65344512-65344521
30	REST	chr6:65344338-65344632	PFSK-1	brain:	n/a	chr6:65344512-65344521
31	REST	chr6:65344459-65344598	Hela-S3	cervix:	n/a	chr6:65344512-65344521
32	REST	chr6:65344393-65344721	HL-60	blood:	n/a	chr6:65344512-65344521
33	REST	chr6:65344414-65344641	Hela-S3	cervix:	n/a	chr6:65344512-65344521
34	REST	chr6:65344301-65344712	MCF-7	breast:	n/a	chr6:65344512-65344521
35	REST	chr6:65344361-65344694	MCF-7	breast:	n/a	chr6:65344512-65344521
36	RFX5	chr6:65357264-65357290	K562	blood:	n/a	n/a
37	RUNX3	chr6:65351345-65351580	GM12878	blood:	n/a	n/a
38	RXRA	chr6:65359229-65359397	HepG2	liver:	n/a	n/a
39	SETDB1	chr6:65353613-65353841	U2OS	brain:	n/a	n/a
40	SPI1	chr6:65345030-65345253	K562	blood:	n/a	n/a
41	SPI1	chr6:65345040-65345294	GM12891	blood:	n/a	n/a
42	SPI1	chr6:65345087-65345263	K562	blood:	n/a	n/a
43	SPI1	chr6:65345029-65345281	GM12891	blood:	n/a	n/a
44	STAT3	chr6:65350771-65350814	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr6:65372629-65372717	MCF10A-Er-Src	breast:	n/a	n/a
46	TEAD4	chr6:65344429-65344634	A549	lung:	n/a	n/a
47	ZC3H11A	chr6:65380190-65380423	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:65372691..65375418-chr6:65377989..65379580,2	MCF-7	breast:
2	chr6:65375121..65377112-chr6:65391704..65393357,2	K562	blood:
3	chr6:65372691..65375418-chr6:65377989..65379580,2	MCF-7	breast:

Variant related genes	Relation type
HNRNPDP2	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188085753	chr6:65344310-65344311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs116013983	chr6:65344312-65344313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527844027	chr6:65344344-65344345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs549222655	chr6:65344348-65344349	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs114594931	chr6:65344371-65344372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144487279	chr6:65344372-65344373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549249168	chr6:65344379-65344380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571246987	chr6:65344387-65344388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577512840	chr6:65344389-65344390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs540811020	chr6:65344412-65344413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79471544	chr6:65344413-65344414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs200944385	chr6:65344440-65344441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs549003667	chr6:65344441-65344442	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs57871928	chr6:65344454-65344455	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572162681	chr6:65344474-65344475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs544431226	chr6:65344528-65344529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536419234	chr6:65344540-65344541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs554398217	chr6:65344559-65344560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs576074525	chr6:65344560-65344561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542704380	chr6:65344610-65344611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs191356698	chr6:65344613-65344614	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376888492	chr6:65344617-65344618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576858827	chr6:65344618-65344619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs545723823	chr6:65344632-65344633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs560801838	chr6:65344667-65344668	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs527899302	chr6:65344685-65344686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs144053956	chr6:65344691-65344692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs529669479	chr6:65344717-65344718	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs6917771	chr6:65345064-65345065	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376098313	chr6:65345103-65345104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537148855	chr6:65345108-65345109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs141040134	chr6:65345123-65345124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs576928508	chr6:65345124-65345125	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150254746	chr6:65345136-65345137	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs9345327	chr6:65345142-65345143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs141610844	chr6:65345161-65345162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542891861	chr6:65345217-65345218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561527840	chr6:65345218-65345219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531751228	chr6:65345261-65345262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs543527513	chr6:65345274-65345275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565010253	chr6:65345293-65345294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113933410	chr6:65356085-65356086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370911144	chr6:65356091-65356092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548897195	chr6:65356151-65356152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373304076	chr6:65356229-65356230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567209893	chr6:65356256-65356257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559572254	chr6:65356289-65356290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533465182	chr6:65356296-65356297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182947025	chr6:65356321-65356322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570177079	chr6:65356324-65356325	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65356000-65356800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:65356800-65358000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:65358200-65358400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:65374000-65374600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:65379200-65380600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:65379600-65379800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr6:65379600-65379800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr6:65379800-65380200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr6:65381000-65384200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:65381400-65382800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:65381400-65383200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:65381600-65383000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:65381800-65382600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr6:65381800-65382800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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