Variant report

Variant	esv2761029
Chromosome Location	chr6:131413789-131452312
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	ARID3A	chr6:131437884-131438290	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:131437954-131438268	K562	blood:	n/a	n/a
3	ARID3A	chr6:131428241-131428680	HepG2	liver:	n/a	n/a
4	ATF1	chr6:131428317-131428583	K562	blood:	n/a	n/a
5	BATF	chr6:131428351-131428664	GM12878	blood:	n/a	n/a
6	BATF	chr6:131451078-131451303	GM12878	blood:	n/a	chr6:131451179-131451189 chr6:131451178-131451189
7	BATF	chr6:131429151-131429474	GM12878	blood:	n/a	n/a
8	BATF	chr6:131451051-131451309	GM12878	blood:	n/a	chr6:131451179-131451189 chr6:131451178-131451189
9	BCL11A	chr6:131429194-131429583	GM12878	blood:	n/a	n/a
10	BCL11A	chr6:131429193-131429588	GM12878	blood:	n/a	n/a
11	BCL3	chr6:131428190-131428608	A549	lung:	n/a	n/a
12	BHLHE40	chr6:131429278-131429501	GM12878	blood:	n/a	n/a
13	BHLHE40	chr6:131437969-131438269	GM12878	blood:	n/a	n/a
14	BHLHE40	chr6:131430159-131430902	GM12878	blood:	n/a	n/a
15	CBX3	chr6:131414426-131414792	HCT-116	colon:	n/a	n/a
16	CCNT2	chr6:131428226-131428504	K562	blood:	n/a	n/a
17	CEBPB	chr6:131428269-131428641	K562	blood:	n/a	chr6:131428501-131428512
18	CEBPB	chr6:131422812-131423123	A549	lung:	n/a	n/a
19	CEBPB	chr6:131422877-131423263	A549	lung:	n/a	n/a
20	CEBPB	chr6:131428321-131428634	A549	lung:	n/a	chr6:131428501-131428512
21	CEBPB	chr6:131437884-131438199	HepG2	liver:	n/a	n/a
22	CEBPB	chr6:131422804-131423009	K562	blood:	n/a	n/a
23	CEBPB	chr6:131428247-131428707	Hela-S3	cervix:	n/a	chr6:131428501-131428512
24	CEBPB	chr6:131451086-131451422	HepG2	liver:	n/a	n/a
25	CEBPB	chr6:131433353-131433696	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr6:131428333-131428672	K562	blood:	n/a	chr6:131428501-131428512
27	CEBPB	chr6:131428256-131428696	IMR90	lung:	n/a	chr6:131428501-131428512
28	CEBPB	chr6:131437882-131438213	IMR90	lung:	n/a	n/a
29	CEBPB	chr6:131437891-131438251	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr6:131428343-131428629	K562	blood:	n/a	chr6:131428501-131428512
31	CEBPB	chr6:131428192-131428821	A549	lung:	n/a	chr6:131428501-131428512
32	CEBPB	chr6:131449370-131449549	HepG2	liver:	n/a	n/a
33	CEBPB	chr6:131443155-131443511	IMR90	lung:	n/a	chr6:131443325-131443334 chr6:131443325-131443336
34	CEBPB	chr6:131428323-131428689	HepG2	liver:	n/a	chr6:131428501-131428512
35	CEBPB	chr6:131437930-131438200	MCF-7	breast:	n/a	n/a
36	CEBPB	chr6:131428312-131428738	A549	lung:	n/a	chr6:131428501-131428512
37	CEBPB	chr6:131437896-131438198	A549	lung:	n/a	n/a
38	CHD2	chr6:131429258-131429500	GM12878	blood:	n/a	n/a
39	CTCF	chr6:131437984-131438204	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr6:131437980-131438130	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr6:131438020-131438170	AG09319	gingival:	n/a	n/a
42	CTCF	chr6:131438020-131438170	GM12873	blood:	n/a	n/a
43	CTCF	chr6:131438000-131438150	HRE	kidney:	n/a	n/a
44	CTCF	chr6:131437931-131438282	A549	lung:	n/a	n/a
45	CTCF	chr6:131437980-131438130	AG04450	lung:	n/a	n/a
46	CTCF	chr6:131438000-131438150	HEK293	kidney:	n/a	n/a
47	CTCF	chr6:131438020-131438170	AG09309	skin:	n/a	n/a
48	CTCF	chr6:131437980-131438130	HCFaa	heart:	n/a	n/a
49	CTCF	chr6:131437991-131438231	K562	blood:	n/a	n/a
50	CTCF	chr6:131452220-131452370	WI-38	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:131445229..131447238-chr6:131455740..131457874,2	K562	blood:
2	chr6:131449929..131453503-chr6:131455186..131458213,3	MCF-7	breast:
3	chr6:131206202..131207218-chr6:131437649..131438583,4	MCF-7	breast:
4	chr6:131206179..131207660-chr6:131436807..131438665,12	K562	blood:
5	chr6:131205861..131206789-chr6:131437584..131438674,3	MCF-7	breast:
6	chr6:131448808..131452691-chr6:131455777..131458768,3	K562	blood:
7	chr6:131443799..131447689-chr6:131455563..131459446,5	K562	blood:
8	chr6:131451653..131454218-chr6:131455902..131457884,2	MCF-7	breast:
9	chr6:131206831..131209804-chr6:131436324..131438672,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPB41L2-1	chr6:131447707-131447861	l_3256_chr6:131447706-131492675_testes

Variant related genes	Relation type
AKAP7	TF binding region
ENSG00000118507	chromatin interactions

Extended variants
information (count: 1247 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1247 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548352554	chr6:131422008-131422009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549613246	chr6:131422082-131422083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200213504	chr6:131422101-131422102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150802947	chr6:131422110-131422111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373877292	chr6:131422117-131422118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1555611	chr6:131422119-131422120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1555610	chr6:131422121-131422122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10529890	chr6:131422127-131422128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62422411	chr6:131422129-131422130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201911121	chr6:131422131-131422132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184617175	chr6:131422164-131422165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528714950	chr6:131422172-131422173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139572718	chr6:131422206-131422207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538540675	chr6:131422250-131422251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12665208	chr6:131422253-131422254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539337112	chr6:131422257-131422258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571650488	chr6:131422298-131422299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188332489	chr6:131422299-131422300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76509167	chr6:131422301-131422302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536245264	chr6:131422306-131422307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554672730	chr6:131422334-131422335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573273125	chr6:131422339-131422340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112790508	chr6:131422405-131422406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6915839	chr6:131422545-131422546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs6915845	chr6:131422563-131422564	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563153536	chr6:131422652-131422653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180804874	chr6:131422666-131422667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150658647	chr6:131422718-131422719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529760459	chr6:131422736-131422737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185789144	chr6:131422737-131422738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560022717	chr6:131422757-131422758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191432575	chr6:131422765-131422766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181154613	chr6:131422775-131422776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571811602	chr6:131422782-131422783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13218427	chr6:131422784-131422785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550912406	chr6:131422790-131422791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569187620	chr6:131422838-131422839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536283076	chr6:131422840-131422841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149833206	chr6:131422872-131422873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566726366	chr6:131422876-131422877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534304107	chr6:131422933-131422934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558741637	chr6:131422938-131422939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577008291	chr6:131422964-131422965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55996418	chr6:131422970-131422971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs556524418	chr6:131422975-131422976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539318274	chr6:131423024-131423025	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs59327805	chr6:131423026-131423027	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368099752	chr6:131423028-131423029	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368634990	chr6:131423033-131423034	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs117751557	chr6:131423049-131423050	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131422000-131422400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:131422200-131424000	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr6:131422400-131423400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr6:131422400-131428000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:131422600-131423600	Enhancers	NH-A	brain
6	chr6:131422600-131424600	Enhancers	HUVEC	blood vessel
7	chr6:131422800-131423000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:131423000-131423400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:131423000-131423600	Enhancers	HMEC	breast
10	chr6:131423000-131423600	Enhancers	NHEK	skin
11	chr6:131423000-131423800	Active TSS	A549	lung
12	chr6:131423000-131423800	Enhancers	HSMM	muscle
13	chr6:131423000-131424000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:131423000-131425400	Enhancers	Duodenum Mucosa	Duodenum
15	chr6:131423000-131425400	Enhancers	Osteobl	bone
16	chr6:131423000-131426000	Enhancers	Fetal Intestine Large	intestine
17	chr6:131423200-131423400	Enhancers	Fetal Intestine Small	intestine
18	chr6:131423200-131423600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:131423200-131424000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:131423400-131423800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:131423400-131424400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:131423400-131424400	Weak transcription	Fetal Intestine Small	intestine
23	chr6:131423600-131423800	Flanking Active TSS	NH-A	brain
24	chr6:131423600-131428000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:131423600-131428000	Weak transcription	NHEK	skin
26	chr6:131423800-131424000	Enhancers	NH-A	brain
27	chr6:131423800-131424200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:131423800-131424400	Flanking Active TSS	A549	lung
29	chr6:131423800-131428000	Weak transcription	HSMM	muscle
30	chr6:131424000-131424200	Flanking Active TSS	NH-A	brain
31	chr6:131424000-131425600	Enhancers	HepG2	liver
32	chr6:131424000-131428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:131424200-131425200	Enhancers	NH-A	brain
34	chr6:131424200-131428000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:131424400-131425000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:131424400-131425400	Enhancers	Fetal Intestine Small	intestine
37	chr6:131424400-131425400	Enhancers	A549	lung
38	chr6:131424600-131427400	Weak transcription	HUVEC	blood vessel
39	chr6:131425000-131426400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:131425000-131427800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:131425200-131425600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr6:131425200-131427200	Weak transcription	NH-A	brain
43	chr6:131425200-131428600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:131425400-131427400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr6:131425400-131427400	Weak transcription	Osteobl	bone
46	chr6:131425400-131427800	Weak transcription	Fetal Intestine Small	intestine
47	chr6:131425400-131427800	Weak transcription	A549	lung
48	chr6:131425600-131428200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr6:131425600-131428200	Weak transcription	HepG2	liver
50	chr6:131426000-131427800	Weak transcription	Fetal Intestine Large	intestine

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