Variant report

Variant	nsv886801
Chromosome Location	chr6:159912337-159984005
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	chr6:159919995-159920363	K562	blood:	n/a	n/a
2	BCL3	chr6:159924437-159924669	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:159920085-159920425	K562	blood:	n/a	n/a
4	CCNT2	chr6:159920092-159920434	K562	blood:	n/a	n/a
5	CCNT2	chr6:159952171-159952320	K562	blood:	n/a	chr6:159952288-159952308
6	CEBPB	chr6:159963283-159963447	HepG2	liver:	n/a	n/a
7	CEBPB	chr6:159950198-159950510	HepG2	liver:	n/a	chr6:159950344-159950355
8	CEBPB	chr6:159920056-159920410	K562	blood:	n/a	n/a
9	CEBPB	chr6:159946773-159946957	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:159950192-159950433	A549	lung:	n/a	chr6:159950344-159950355
11	CEBPD	chr6:159919963-159920522	K562	blood:	n/a	n/a
12	CEBPD	chr6:159941138-159941434	K562	blood:	n/a	n/a
13	CEBPD	chr6:159941119-159941432	K562	blood:	n/a	n/a
14	CEBPD	chr6:159920090-159920534	K562	blood:	n/a	n/a
15	CTCF	chr6:159961280-159961430	GM12864	blood:	n/a	chr6:159961389-159961398
16	CTCF	chr6:159961240-159961390	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr6:159961260-159961410	K562	blood:	n/a	chr6:159961389-159961398
18	CTCF	chr6:159961400-159961550	NHLF	lung:	n/a	n/a
19	CTCF	chr6:159961334-159961470	MCF-7	breast:	n/a	chr6:159961389-159961398
20	CTCF	chr6:159961220-159961370	WI-38	lung:	n/a	n/a
21	CTCF	chr6:159948540-159948690	GM12873	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
22	CTCF	chr6:159963880-159964030	GM12867	blood:	n/a	n/a
23	CTCF	chr6:159961340-159961490	RPTEC	kidney:	n/a	chr6:159961389-159961398
24	CTCF	chr6:159961300-159961450	BE2_C	brain:	n/a	chr6:159961389-159961398
25	CTCF	chr6:159961345-159961461	GM13977	blood:	n/a	chr6:159961389-159961398
26	CTCF	chr6:159948440-159948590	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr6:159961340-159961490	HRPEpiC	eye:	n/a	chr6:159961389-159961398
28	CTCF	chr6:159961260-159961410	GM12868	blood:	n/a	chr6:159961389-159961398
29	CTCF	chr6:159961280-159961430	HMEC	breast:	n/a	chr6:159961389-159961398
30	CTCF	chr6:159961320-159961470	AG04450	lung:	n/a	chr6:159961389-159961398
31	CTCF	chr6:159961306-159961502	IMR90	lung:	n/a	chr6:159961389-159961398
32	CTCF	chr6:159961320-159961470	AG10803	skin:	n/a	chr6:159961389-159961398
33	CTCF	chr6:159948520-159948670	HEK293	kidney:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
34	CTCF	chr6:159961280-159961430	HFF-Myc	foreskin:	n/a	chr6:159961389-159961398
35	CTCF	chr6:159961300-159961450	HEK293	kidney:	n/a	chr6:159961389-159961398
36	CTCF	chr6:159961360-159961510	Caco-2	colon:	n/a	chr6:159961389-159961398
37	CTCF	chr6:159961500-159961650	GM12866	blood:	n/a	n/a
38	CTCF	chr6:159961360-159961510	GM06990	blood:	n/a	chr6:159961389-159961398
39	CTCF	chr6:159961340-159961490	WERI-Rb-1	eye:	n/a	chr6:159961389-159961398
40	CTCF	chr6:159961263-159961529	K562	blood:	n/a	chr6:159961389-159961398
41	CTCF	chr6:159961320-159961470	HAc	cerebellar:	n/a	chr6:159961389-159961398
42	CTCF	chr6:159948520-159948670	HMF	breast:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
43	CTCF	chr6:159961340-159961490	AG04450	lung:	n/a	chr6:159961389-159961398
44	CTCF	chr6:159961201-159961605	K562	blood:	n/a	chr6:159961389-159961398
45	CTCF	chr6:159961280-159961430	MCF-7	breast:	n/a	chr6:159961389-159961398
46	CTCF	chr6:159961320-159961470	GM12867	blood:	n/a	chr6:159961389-159961398
47	CTCF	chr6:159948480-159948630	GM06990	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
48	CTCF	chr6:159961300-159961450	SAEC	small airway:	n/a	chr6:159961389-159961398
49	CTCF	chr6:159961260-159961410	AG09319	gingival:	n/a	chr6:159961389-159961398
50	CTCF	chr6:159961340-159961490	GM12869	blood:	n/a	chr6:159961389-159961398

No.	Distal block	Cell Line	Cell type
1	chr6:159919582..159921588-chr6:159923739..159925381,2	K562	blood:
2	chr6:159915631..159918431-chr6:159924756..159927385,2	K562	blood:
3	chr6:159925925..159927796-chr6:159928624..159931407,2	K562	blood:
4	chr6:159954294..159955836-chr6:159961150..159963704,2	K562	blood:
5	chr6:159978197..159978767-chr7:109093225..109094180,2	MCF-7	breast:
6	chr6:159899659..159901437-chr6:159947768..159949336,2	K562	blood:
7	chr6:159915631..159918431-chr6:159924756..159927385,2	K562	blood:
8	chr6:159925925..159927796-chr6:159928624..159931407,2	K562	blood:
9	chr6:159956412..159958991-chr6:159959166..159961062,2	K562	blood:
10	chr6:159962949..159965344-chr6:159972069..159973943,2	K562	blood:
11	chr6:159914534..159916773-chr6:159921787..159923862,2	K562	blood:
12	chr6:159956412..159958991-chr6:159959166..159961062,2	K562	blood:
13	chr6:159962949..159965344-chr6:159972069..159973943,2	K562	blood:
14	chr6:159954294..159955836-chr6:159961150..159963704,2	K562	blood:
15	chr6:159919857..159922688-chr6:159925780..159927711,2	K562	blood:
16	chr6:159914534..159916773-chr6:159921787..159923862,2	K562	blood:
17	chr6:159919582..159921588-chr6:159923739..159925381,2	K562	blood:
18	chr6:159919857..159922688-chr6:159925780..159927711,2	K562	blood:
19	chr6:159982274..159982888-chr6:159992369..159993288,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOD2-8	chr6:159927977-159928977	NONHSAT115847
2	lnc-SOD2-7	chr6:159980423-159981123	NONHSAT115848
3	lnc-SOD2-7	chr6:159980329-159980368	NONHSAT115848
4	lnc-SOD2-8	chr6:159929191-159930191	NONHSAT115847

Variant related genes	Relation type
ENSG00000216480	TF binding region

Extended variants
information (count: 2044 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2044 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192138	chr6:159912337-159912338	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539931285	chr6:159912342-159912343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556728537	chr6:159912344-159912345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576485923	chr6:159912358-159912359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79553681	chr6:159912364-159912365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562374812	chr6:159912410-159912411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374545996	chr6:159912416-159912417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572661790	chr6:159912448-159912449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541569995	chr6:159912450-159912451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564523757	chr6:159912495-159912496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181120406	chr6:159912514-159912515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551837523	chr6:159912523-159912524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562269571	chr6:159912524-159912525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9457658	chr6:159912607-159912608	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547796780	chr6:159912622-159912623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568302936	chr6:159912624-159912625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184187103	chr6:159912696-159912697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112797811	chr6:159912730-159912731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547716193	chr6:159912761-159912762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4709340	chr6:159912782-159912783	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539672332	chr6:159912803-159912804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556667178	chr6:159912821-159912822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570180586	chr6:159912847-159912848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs240865	chr6:159912854-159912855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs555482717	chr6:159912911-159912912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572453158	chr6:159912941-159912942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147214558	chr6:159912953-159912954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189055363	chr6:159912978-159912979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181726884	chr6:159912987-159912988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186382273	chr6:159913036-159913037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192408950	chr6:159913061-159913062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182198541	chr6:159913069-159913070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531314087	chr6:159913079-159913080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573876133	chr6:159913148-159913149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541761825	chr6:159913158-159913159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541895067	chr6:159913169-159913170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561523170	chr6:159913186-159913187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527317617	chr6:159913209-159913210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561380603	chr6:159913260-159913261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547353506	chr6:159913279-159913280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530438183	chr6:159913345-159913346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77854375	chr6:159913356-159913357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570209577	chr6:159913410-159913411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550012314	chr6:159913441-159913442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376934148	chr6:159913465-159913466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11964102	chr6:159913475-159913476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140623953	chr6:159913512-159913513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552241269	chr6:159913593-159913594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565880766	chr6:159913595-159913596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79625103	chr6:159913652-159913653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:159904800-159916800	Weak transcription	Aorta	Aorta
2	chr6:159910800-159912600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:159911000-159912600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:159911000-159912600	Enhancers	Stomach Smooth Muscle	stomach
5	chr6:159911000-159913200	Enhancers	Adipose Nuclei	Adipose
6	chr6:159911200-159912400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:159912000-159915600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr6:159912000-159915600	Weak transcription	Right Atrium	heart
9	chr6:159912200-159912600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:159912200-159913600	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:159912600-159914800	Enhancers	Fetal Muscle Trunk	muscle
12	chr6:159913200-159913600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:159913600-159916200	Enhancers	Adipose Nuclei	Adipose
14	chr6:159913600-159916400	Enhancers	Fetal Muscle Leg	muscle
15	chr6:159913800-159914200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr6:159914000-159914600	Bivalent Enhancer	Left Ventricle	heart
17	chr6:159914000-159916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:159914200-159914400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:159914200-159915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:159914400-159914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:159914800-159915000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:159914800-159915200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:159915000-159916400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:159915200-159916400	Enhancers	Fetal Muscle Trunk	muscle
25	chr6:159915400-159916200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr6:159915600-159915800	Enhancers	Esophagus	oesophagus
27	chr6:159915600-159916000	Enhancers	Right Atrium	heart
28	chr6:159915600-159916200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr6:159915600-159916200	Enhancers	Left Ventricle	heart
30	chr6:159915800-159917000	Weak transcription	Esophagus	oesophagus
31	chr6:159916000-159916200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr6:159916000-159927400	Weak transcription	Right Atrium	heart
33	chr6:159920000-159920800	Enhancers	K562	blood
34	chr6:159924000-159927600	Weak transcription	Spleen	Spleen
35	chr6:159924400-159924600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr6:159924600-159925600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr6:159925200-159927600	Enhancers	Fetal Muscle Leg	muscle
38	chr6:159925400-159925800	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:159925600-159927600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr6:159925800-159926200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr6:159926200-159927600	Enhancers	Fetal Muscle Trunk	muscle
42	chr6:159926400-159927200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:159926400-159927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:159926400-159927400	Enhancers	Adipose Nuclei	Adipose
45	chr6:159926600-159927000	Enhancers	Lung	lung
46	chr6:159927400-159932800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:159932800-159935800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:159933800-159934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:159935000-159935400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr6:159935400-159935600	Bivalent Enhancer	NHDF-Ad	bronchial

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