Variant report

Variant	nsv886800
Chromosome Location	chr6:159905527-159985424
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	chr6:159952171-159952320	K562	blood:	n/a	chr6:159952288-159952308
5	CCNT2	chr6:159920092-159920434	K562	blood:	n/a	n/a
6	CEBPB	chr6:159950198-159950510	HepG2	liver:	n/a	chr6:159950344-159950355
7	CEBPB	chr6:159920056-159920410	K562	blood:	n/a	n/a
8	CEBPB	chr6:159950192-159950433	A549	lung:	n/a	chr6:159950344-159950355
9	CEBPB	chr6:159946773-159946957	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:159963283-159963447	HepG2	liver:	n/a	n/a
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	chr6:159961380-159961530	HRE	kidney:	n/a	chr6:159961389-159961398
16	CTCF	chr6:159961380-159961530	GM12878	blood:	n/a	chr6:159961389-159961398
17	CTCF	chr6:159961320-159961470	AG04450	lung:	n/a	chr6:159961389-159961398
18	CTCF	chr6:159978220-159978370	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr6:159948580-159948730	GM12872	blood:	n/a	chr6:159948697-159948705 chr6:159948698-159948706
20	CTCF	chr6:159961280-159961430	HL-60	blood:	n/a	chr6:159961389-159961398
21	CTCF	chr6:159941679-159941682	Lung_OC	lung:	n/a	n/a
22	CTCF	chr6:159961263-159961529	K562	blood:	n/a	chr6:159961389-159961398
23	CTCF	chr6:159948500-159948650	NB4	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
24	CTCF	chr6:159961320-159961470	Caco-2	colon:	n/a	chr6:159961389-159961398
25	CTCF	chr6:159961320-159961470	GM12867	blood:	n/a	chr6:159961389-159961398
26	CTCF	chr6:159961142-159961599	K562	blood:	n/a	chr6:159961389-159961398
27	CTCF	chr6:159961340-159961490	NHEK	skin:	n/a	chr6:159961389-159961398
28	CTCF	chr6:159948480-159948630	GM12870	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
29	CTCF	chr6:159948480-159948630	HBMEC	blood vessel:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
30	CTCF	chr6:159961300-159961450	GM12864	blood:	n/a	chr6:159961389-159961398
31	CTCF	chr6:159961340-159961490	HepG2	liver:	n/a	chr6:159961389-159961398
32	CTCF	chr6:159961340-159961490	GM12874	blood:	n/a	chr6:159961389-159961398
33	CTCF	chr6:159961300-159961450	GM12872	blood:	n/a	chr6:159961389-159961398
34	CTCF	chr6:159961331-159961480	LNCaP	prostate:	n/a	chr6:159961389-159961398
35	CTCF	chr6:159948520-159948670	GM12865	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
36	CTCF	chr6:159961452-159961455	GM10266	blood:	n/a	n/a
37	CTCF	chr6:159961300-159961450	BE2_C	brain:	n/a	chr6:159961389-159961398
38	CTCF	chr6:159961361-159961437	ProgFib	skin:	n/a	chr6:159961389-159961398
39	CTCF	chr6:159948500-159948650	WERI-Rb-1	eye:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
40	CTCF	chr6:159961338-159961456	MCF-7	breast:	n/a	chr6:159961389-159961398
41	CTCF	chr6:159961300-159961450	GM12866	blood:	n/a	chr6:159961389-159961398
42	CTCF	chr6:159953340-159953490	GM12873	blood:	n/a	n/a
43	CTCF	chr6:159948525-159948623	GM19240	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600
44	CTCF	chr6:159961280-159961430	MCF-7	breast:	n/a	chr6:159961389-159961398
45	CTCF	chr6:159961200-159961646	K562	blood:	n/a	chr6:159961389-159961398
46	CTCF	chr6:159961340-159961490	HRPEpiC	eye:	n/a	chr6:159961389-159961398
47	CTCF	chr6:159961343-159961480	MCF-7	breast:	n/a	chr6:159961389-159961398
48	CTCF	chr6:159961320-159961470	GM12871	blood:	n/a	chr6:159961389-159961398
49	CTCF	chr6:159961300-159961450	GM12801	blood:	n/a	chr6:159961389-159961398
50	CTCF	chr6:159948520-159948670	GM12868	blood:	n/a	chr6:159948577-159948595 chr6:159948579-159948600

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOD2-7	chr6:159980329-159980368	NONHSAT115848
2	lnc-SOD2-8	chr6:159929191-159930191	NONHSAT115847
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: 2356 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2356 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9457653	chr6:159905527-159905528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531832490	chr6:159905582-159905583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533546758	chr6:159905594-159905595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550126832	chr6:159905608-159905609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117463590	chr6:159905667-159905668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112303714	chr6:159905707-159905708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16890420	chr6:159905729-159905730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs16890423	chr6:159905773-159905774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77811151	chr6:159905776-159905777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537805125	chr6:159905846-159905847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533581989	chr6:159905859-159905860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145291873	chr6:159905885-159905886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547191797	chr6:159905937-159905938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12198107	chr6:159905959-159905960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570678426	chr6:159905978-159905979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71033533	chr6:159905981-159905982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539586226	chr6:159905993-159905994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147653527	chr6:159906007-159906008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13209999	chr6:159906117-159906118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111696496	chr6:159906135-159906136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57143808	chr6:159906140-159906141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58023589	chr6:159906143-159906144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7741813	chr6:159906145-159906146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62438467	chr6:159906148-159906149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140097842	chr6:159906150-159906151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374943113	chr6:159906155-159906156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369060403	chr6:159906160-159906161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372477930	chr6:159906165-159906166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566981983	chr6:159906205-159906206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550053896	chr6:159906220-159906221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535952282	chr6:159906254-159906255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555940645	chr6:159906282-159906283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572457835	chr6:159906345-159906346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541093250	chr6:159906363-159906364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188417709	chr6:159906378-159906379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59722191	chr6:159906395-159906396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192868738	chr6:159906419-159906420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563543807	chr6:159906468-159906469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185384511	chr6:159906546-159906547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79663477	chr6:159906548-159906549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549719867	chr6:159906591-159906592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561480014	chr6:159906604-159906605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs240868	chr6:159906628-159906629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547094373	chr6:159906667-159906668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189013879	chr6:159906672-159906673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113326249	chr6:159906676-159906677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538661680	chr6:159906691-159906692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76829318	chr6:159906730-159906731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs240867	chr6:159906732-159906733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572020357	chr6:159906759-159906760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:159904000-159905600	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:159904400-159908000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:159904800-159916800	Weak transcription	Aorta	Aorta
4	chr6:159908400-159908800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:159908400-159909200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:159908400-159909800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:159908600-159909200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:159908600-159909200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:159908600-159909200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:159908800-159909000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:159908800-159909400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:159908800-159909600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:159909800-159911200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:159910000-159910200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:159910800-159912600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:159911000-159912600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr6:159911000-159912600	Enhancers	Stomach Smooth Muscle	stomach
18	chr6:159911000-159913200	Enhancers	Adipose Nuclei	Adipose
19	chr6:159911200-159911400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:159911200-159912000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:159911200-159912000	Enhancers	Stomach Mucosa	stomach
22	chr6:159911200-159912200	Enhancers	Fetal Muscle Leg	muscle
23	chr6:159911200-159912200	Bivalent Enhancer	Fetal Stomach	stomach
24	chr6:159911200-159912400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr6:159911400-159912000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:159911400-159912200	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:159911600-159912000	Enhancers	Right Atrium	heart
28	chr6:159911800-159912000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:159911800-159912200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:159911800-159912200	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:159912000-159915600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:159912000-159915600	Weak transcription	Right Atrium	heart
33	chr6:159912200-159912600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:159912200-159913600	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:159912600-159914800	Enhancers	Fetal Muscle Trunk	muscle
36	chr6:159913200-159913600	Weak transcription	Adipose Nuclei	Adipose
37	chr6:159913600-159916200	Enhancers	Adipose Nuclei	Adipose
38	chr6:159913600-159916400	Enhancers	Fetal Muscle Leg	muscle
39	chr6:159913800-159914200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:159914000-159914600	Bivalent Enhancer	Left Ventricle	heart
41	chr6:159914000-159916200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:159914200-159914400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:159914200-159915800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:159914400-159914800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:159914800-159915000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:159914800-159915200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:159915000-159916400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:159915200-159916400	Enhancers	Fetal Muscle Trunk	muscle
49	chr6:159915400-159916200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:159915600-159915800	Enhancers	Esophagus	oesophagus

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