Variant report

Variant	nsv886802
Chromosome Location	chr6:159922571-159984005
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	BCL3	chr6:159924437-159924669	GM12878	blood:	n/a	n/a
2	CCNT2	chr6:159952171-159952320	K562	blood:	n/a	chr6:159952288-159952308
3	CEBPB	chr6:159950198-159950510	HepG2	liver:	n/a	chr6:159950344-159950355
4	CEBPB	chr6:159950192-159950433	A549	lung:	n/a	chr6:159950344-159950355
5	CEBPB	chr6:159946773-159946957	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:159963283-159963447	HepG2	liver:	n/a	n/a
7	CEBPD	chr6:159941138-159941434	K562	blood:	n/a	n/a
8	CEBPD	chr6:159941119-159941432	K562	blood:	n/a	n/a
9	CTCF	chr6:159961340-159961490	GM12872	blood:	n/a	chr6:159961389-159961398
10	CTCF	chr6:159948566-159948597	Medullo	brain:	n/a	chr6:159948577-159948595
11	CTCF	chr6:159961272-159961566	MCF-7	breast:	n/a	chr6:159961389-159961398
12	CTCF	chr6:159961360-159961510	RPTEC	kidney:	n/a	chr6:159961389-159961398
13	CTCF	chr6:159961320-159961470	HCPEpiC	choroid plexus:	n/a	chr6:159961389-159961398
14	CTCF	chr6:159961338-159961456	MCF-7	breast:	n/a	chr6:159961389-159961398
15	CTCF	chr6:159961280-159961430	Hela-S3	cervix:	n/a	chr6:159961389-159961398
16	CTCF	chr6:159948480-159948630	GM12870	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
17	CTCF	chr6:159961280-159961430	GM12873	blood:	n/a	chr6:159961389-159961398
18	CTCF	chr6:159961220-159961370	HFF	foreskin:	n/a	n/a
19	CTCF	chr6:159961260-159961410	NHEK	skin:	n/a	chr6:159961389-159961398
20	CTCF	chr6:159961400-159961550	NHLF	lung:	n/a	n/a
21	CTCF	chr6:159948460-159948610	HAc	cerebellar:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
22	CTCF	chr6:159948480-159948630	HMEC	breast:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
23	CTCF	chr6:159961340-159961490	HRE	kidney:	n/a	chr6:159961389-159961398
24	CTCF	chr6:159961328-159961490	MCF-7	breast:	n/a	chr6:159961389-159961398
25	CTCF	chr6:159961300-159961450	GM12865	blood:	n/a	chr6:159961389-159961398
26	CTCF	chr6:159948600-159948750	GM06990	blood:	n/a	chr6:159948697-159948705 chr6:159948698-159948706
27	CTCF	chr6:159948520-159948670	HMF	breast:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
28	CTCF	chr6:159961280-159961430	HPF	lung:	n/a	chr6:159961389-159961398
29	CTCF	chr6:159961320-159961470	AG04450	lung:	n/a	chr6:159961389-159961398
30	CTCF	chr6:159961380-159961530	GM12878	blood:	n/a	chr6:159961389-159961398
31	CTCF	chr6:159981220-159981370	HepG2	liver:	n/a	n/a
32	CTCF	chr6:159961198-159961604	K562	blood:	n/a	chr6:159961389-159961398
33	CTCF	chr6:159961300-159961450	GM12864	blood:	n/a	chr6:159961389-159961398
34	CTCF	chr6:159961300-159961450	GM12801	blood:	n/a	chr6:159961389-159961398
35	CTCF	chr6:159978220-159978370	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr6:159961260-159961410	HCT-116	colon:	n/a	chr6:159961389-159961398
37	CTCF	chr6:159961320-159961470	GM12874	blood:	n/a	chr6:159961389-159961398
38	CTCF	chr6:159961320-159961470	AoAF	blood vessel:	n/a	chr6:159961389-159961398
39	CTCF	chr6:159948480-159948630	GM12873	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
40	CTCF	chr6:159948500-159948650	K562	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
41	CTCF	chr6:159961331-159961480	LNCaP	prostate:	n/a	chr6:159961389-159961398
42	CTCF	chr6:159961300-159961450	GM12866	blood:	n/a	chr6:159961389-159961398
43	CTCF	chr6:159961300-159961450	HEK293	kidney:	n/a	chr6:159961389-159961398
44	CTCF	chr6:159961297-159961524	HepG2	liver:	n/a	chr6:159961389-159961398
45	CTCF	chr6:159961280-159961430	HCM	heart:	n/a	chr6:159961389-159961398
46	CTCF	chr6:159961240-159961390	HMF	breast:	n/a	n/a
47	CTCF	chr6:159961370-159961451	GM10266	blood:	n/a	chr6:159961389-159961398
48	CTCF	chr6:159960480-159960630	HepG2	liver:	n/a	n/a
49	CTCF	chr6:159961365-159961428	LNCaP	prostate:	n/a	chr6:159961389-159961398
50	CTCF	chr6:159948547-159948641	GM12892	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600

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

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

Variant related genes	Relation type
ENSG00000216480	TF binding region

Extended variants
information (count: 1660 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1660 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs240831	chr6:159922571-159922572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369005113	chr6:159922584-159922585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200509551	chr6:159922667-159922668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374896270	chr6:159922668-159922669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs240830	chr6:159922682-159922683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs551227231	chr6:159922764-159922765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567878869	chr6:159922817-159922818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73586936	chr6:159922820-159922821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575820923	chr6:159922833-159922834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544361754	chr6:159922843-159922844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547216243	chr6:159922860-159922861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564607999	chr6:159922879-159922880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528942936	chr6:159922904-159922905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543868601	chr6:159922914-159922915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79177142	chr6:159922984-159922985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534695891	chr6:159922987-159922988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551538449	chr6:159923061-159923062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571203437	chr6:159923117-159923118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192136	chr6:159923134-159923135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs55805983	chr6:159923148-159923149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557188785	chr6:159923151-159923152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573864038	chr6:159923312-159923313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs240854	chr6:159923334-159923335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs240855	chr6:159923390-159923391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572742128	chr6:159923397-159923398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545076479	chr6:159923410-159923411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565060946	chr6:159923417-159923418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529188988	chr6:159923419-159923420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575558741	chr6:159923443-159923444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs55875257	chr6:159923470-159923471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561579724	chr6:159923486-159923487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530322551	chr6:159923497-159923498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376181940	chr6:159923505-159923506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117778927	chr6:159923543-159923544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532783623	chr6:159923556-159923557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193001469	chr6:159923581-159923582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185657044	chr6:159923600-159923601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190531237	chr6:159923603-159923604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373414569	chr6:159923612-159923613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180766751	chr6:159923634-159923635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567300945	chr6:159923643-159923644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536132062	chr6:159923668-159923669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184975320	chr6:159923708-159923709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568938526	chr6:159923721-159923722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371519108	chr6:159923733-159923734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538461408	chr6:159923767-159923768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188215967	chr6:159923800-159923801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375288474	chr6:159923824-159923825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373622961	chr6:159923831-159923832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558586087	chr6:159923858-159923859	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:159916000-159927400	Weak transcription	Right Atrium	heart
2	chr6:159924000-159927600	Weak transcription	Spleen	Spleen
3	chr6:159924400-159924600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:159924600-159925600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:159925200-159927600	Enhancers	Fetal Muscle Leg	muscle
6	chr6:159925400-159925800	Enhancers	Fetal Muscle Trunk	muscle
7	chr6:159925600-159927600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:159925800-159926200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr6:159926200-159927600	Enhancers	Fetal Muscle Trunk	muscle
10	chr6:159926400-159927200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr6:159926400-159927400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:159926400-159927400	Enhancers	Adipose Nuclei	Adipose
13	chr6:159926600-159927000	Enhancers	Lung	lung
14	chr6:159927400-159932800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:159932800-159935800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:159933800-159934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:159935000-159935400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr6:159935400-159935600	Bivalent Enhancer	NHDF-Ad	bronchial
19	chr6:159941400-159942000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:159942600-159942800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:159945000-159950800	Weak transcription	Right Atrium	heart
22	chr6:159945800-159946800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:159946200-159946800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:159946200-159947200	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:159946600-159947000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:159946600-159947000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:159946600-159947200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:159946800-159950400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:159948800-159949400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:159948800-159949400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:159949000-159950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:159949000-159952400	Enhancers	Fetal Muscle Leg	muscle
33	chr6:159949200-159949400	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:159949400-159950000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:159950000-159951800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:159950000-159952400	Enhancers	Fetal Muscle Trunk	muscle
37	chr6:159950200-159950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:159950200-159951600	Enhancers	Fetal Stomach	stomach
39	chr6:159950200-159951800	Enhancers	Adipose Nuclei	Adipose
40	chr6:159950400-159950600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:159950400-159951000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:159950600-159952000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:159951800-159954000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:159952400-159954400	Weak transcription	Fetal Muscle Leg	muscle
45	chr6:159952400-159954800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:159953000-159953400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:159953400-159953800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:159953800-159955400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:159954000-159955400	Enhancers	NHDF-Ad	bronchial
50	chr6:159954000-159955800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

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