Variant report

Variant	esv1837817
Chromosome Location	chr6:141055242-141082411
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	chr6:141057542-141057722	K562	blood:	n/a	n/a
2	BACH1	chr6:141066249-141066420	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:141066206-141066385	K562	blood:	n/a	n/a
4	BATF	chr6:141066029-141066341	GM12878	blood:	n/a	chr6:141066245-141066256
5	BATF	chr6:141065980-141066438	GM12878	blood:	n/a	chr6:141066245-141066256
6	BCL11A	chr6:141079725-141079897	GM12878	blood:	n/a	n/a
7	CBX3	chr6:141068268-141068538	K562	blood:	n/a	n/a
8	CEBPB	chr6:141079019-141079692	Hela-S3	cervix:	n/a	chr6:141079494-141079505
9	CEBPB	chr6:141078984-141079681	IMR90	lung:	n/a	chr6:141079494-141079505
10	CEBPB	chr6:141079396-141079628	H1-hESC	embryonic stem cell:	n/a	chr6:141079494-141079505
11	CEBPB	chr6:141078959-141079679	HepG2	liver:	n/a	chr6:141079494-141079505
12	CEBPB	chr6:141078966-141079686	K562	blood:	n/a	chr6:141079494-141079505
13	CEBPB	chr6:141079352-141079659	A549	lung:	n/a	chr6:141079494-141079505
14	CTCF	chr6:141068780-141068930	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr6:141071880-141072030	K562	blood:	n/a	n/a
16	CTCF	chr6:141055348-141055392	K562	blood:	n/a	n/a
17	CTCF	chr6:141068840-141068990	NB4	blood:	n/a	n/a
18	CTCF	chr6:141068820-141068970	HCFaa	heart:	n/a	n/a
19	EBF1	chr6:141065976-141066273	GM12878	blood:	n/a	n/a
20	EP300	chr6:141066170-141066261	GM12878	blood:	n/a	n/a
21	FOS	chr6:141066121-141066430	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr6:141066125-141066457	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr6:141079442-141079537	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:141066149-141066430	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr6:141066110-141066433	MCF10A-Er-Src	breast:	n/a	n/a
26	GATA3	chr6:141055313-141055513	SH-SY5Y	brain:	n/a	n/a
27	IRF4	chr6:141066049-141066480	GM12878	blood:	n/a	n/a
28	JUN	chr6:141079371-141079533	HepG2	liver:	n/a	chr6:141079495-141079508
29	JUND	chr6:141079391-141079639	HepG2	liver:	n/a	n/a
30	JUND	chr6:141079538-141079562	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr6:141063065-141063098	H1-hESC	embryonic stem cell:	n/a	n/a
32	KAP1	chr6:141068402-141068602	U2OS	brain:	n/a	n/a
33	KAP1	chr6:141068259-141068689	HEK293	kidney:	n/a	n/a
34	KAP1	chr6:141068307-141068571	K562	blood:	n/a	n/a
35	MAFF	chr6:141066117-141066478	K562	blood:	n/a	chr6:141066298-141066316
36	MAFF	chr6:141073397-141073734	HepG2	liver:	n/a	n/a
37	MAFF	chr6:141073469-141073716	K562	blood:	n/a	n/a
38	MAFF	chr6:141065959-141066495	HepG2	liver:	n/a	chr6:141066298-141066316
39	MAFK	chr6:141066116-141066491	Hela-S3	cervix:	n/a	chr6:141066299-141066314
40	MAFK	chr6:141073415-141073708	IMR90	lung:	n/a	chr6:141073574-141073589
41	MAFK	chr6:141076330-141076529	HepG2	liver:	n/a	chr6:141076439-141076454 chr6:141076438-141076452 chr6:141076439-141076450 chr6:141076439-141076455 chr6:141076439-141076450 chr6:141076440-141076451
42	MAFK	chr6:141066116-141066491	K562	blood:	n/a	chr6:141066299-141066314
43	MAFK	chr6:141066115-141066624	GM12878	blood:	n/a	chr6:141066299-141066314
44	MAFK	chr6:141077293-141077399	HepG2	liver:	n/a	n/a
45	MAFK	chr6:141066023-141066584	IMR90	lung:	n/a	chr6:141066299-141066314
46	MAFK	chr6:141076367-141076487	HepG2	liver:	n/a	chr6:141076439-141076454 chr6:141076438-141076452 chr6:141076439-141076450 chr6:141076439-141076455 chr6:141076439-141076450 chr6:141076440-141076451
47	MAFK	chr6:141066104-141066494	HepG2	liver:	n/a	chr6:141066299-141066314
48	MAFK	chr6:141073411-141073743	HepG2	liver:	n/a	chr6:141073574-141073589
49	MAFK	chr6:141066141-141066389	H1-hESC	embryonic stem cell:	n/a	chr6:141066299-141066314
50	MAFK	chr6:141073474-141073670	K562	blood:	n/a	chr6:141073574-141073589

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:141069422..141072199-chr6:141082873..141085142,2	K562	blood:

Variant related genes	Relation type
RPS3AP24	TF binding region

Extended variants
information (count: 747 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:747 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140390149	chr6:141055303-141055304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376800082	chr6:141055307-141055308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542835570	chr6:141055315-141055316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554770808	chr6:141055367-141055368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576318927	chr6:141055368-141055369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550299981	chr6:141055480-141055481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530313469	chr6:141055505-141055506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150386509	chr6:141055621-141055622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570474796	chr6:141055634-141055635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115364174	chr6:141055652-141055653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186818406	chr6:141055699-141055700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559611696	chr6:141055739-141055740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137861480	chr6:141055750-141055751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141961651	chr6:141055802-141055803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567509572	chr6:141055828-141055829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531635740	chr6:141055840-141055841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549813426	chr6:141055850-141055851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79090992	chr6:141055915-141055916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538271965	chr6:141055945-141055946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553802826	chr6:141055960-141055961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191286843	chr6:141055962-141055963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535981392	chr6:141056014-141056015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145841430	chr6:141056079-141056080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113155892	chr6:141056099-141056100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138739316	chr6:141056100-141056101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533032317	chr6:141056122-141056123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537306726	chr6:141056146-141056147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558999850	chr6:141056252-141056253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560255147	chr6:141056254-141056255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541044006	chr6:141056255-141056256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371603934	chr6:141056282-141056283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559729108	chr6:141056312-141056313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2506856	chr6:141056353-141056354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs182753021	chr6:141056363-141056364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574356309	chr6:141056423-141056424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144336665	chr6:141056509-141056510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531547392	chr6:141056511-141056512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550015422	chr6:141056512-141056513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565055480	chr6:141056513-141056514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569589629	chr6:141056523-141056524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs68021798	chr6:141056524-141056525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398110760	chr6:141056536-141056537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555169851	chr6:141056576-141056577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200244188	chr6:141056599-141056600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532467061	chr6:141056638-141056639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187266022	chr6:141056647-141056648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569237015	chr6:141056678-141056679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535895475	chr6:141056686-141056687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547889812	chr6:141056750-141056751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373648317	chr6:141056756-141056757	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
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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141053200-141057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:141053400-141057200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:141053800-141057400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:141055000-141057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:141055200-141057200	Weak transcription	Osteobl	bone
6	chr6:141055200-141057600	Weak transcription	NHDF-Ad	bronchial
7	chr6:141057200-141057800	Enhancers	Fetal Kidney	kidney
8	chr6:141057200-141058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:141057200-141058000	Enhancers	Osteobl	bone
10	chr6:141057200-141058200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:141057400-141057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:141057400-141058200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:141057600-141057800	Enhancers	NHDF-Ad	bronchial
14	chr6:141057800-141058000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:141062400-141063000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:141064800-141066800	Enhancers	Stomach Mucosa	stomach
17	chr6:141065200-141067000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr6:141065400-141066600	Enhancers	Esophagus	oesophagus
19	chr6:141065400-141066800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:141065800-141066600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:141065800-141066800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:141065800-141066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:141066000-141066400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:141066000-141066400	Enhancers	HSMM	muscle
25	chr6:141066000-141066400	Enhancers	Osteobl	bone
26	chr6:141066000-141066600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:141066000-141066600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:141066000-141066600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:141066000-141066600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:141066000-141066600	Enhancers	HMEC	breast
31	chr6:141066000-141066600	Enhancers	NHDF-Ad	bronchial
32	chr6:141066000-141066600	Enhancers	NHEK	skin
33	chr6:141066000-141066800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:141066200-141066600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:141066200-141066600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:141066200-141066600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:141066200-141066800	Enhancers	NHLF	lung
38	chr6:141066600-141068200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:141066600-141068400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:141066800-141088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:141068200-141070000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:141068200-141070400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:141068400-141068600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:141068400-141070000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:141068600-141070000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr6:141068600-141070000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:141079600-141080200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr6:141080600-141089200	Weak transcription	Placenta	Placenta
49	chr6:141081600-141083600	Weak transcription	Fetal Heart	heart

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