Variant report

Variant	nsv603260
Chromosome Location	chr6:61920533-62115542
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	CEBPB	chr6:62046921-62047170	HepG2	liver:	n/a	chr6:62047060-62047073 chr6:62047060-62047073 chr6:62047062-62047071 chr6:62047060-62047071 chr6:62047062-62047073
2	CEBPB	chr6:62110212-62110414	HepG2	liver:	n/a	chr6:62110257-62110268
3	CEBPB	chr6:62056159-62056270	A549	lung:	n/a	chr6:62056191-62056202
4	CEBPB	chr6:62056047-62056342	IMR90	lung:	n/a	chr6:62056191-62056202
5	CEBPB	chr6:62056057-62056321	HepG2	liver:	n/a	chr6:62056191-62056202
6	CEBPB	chr6:61996403-61996623	HepG2	liver:	n/a	chr6:61996495-61996506
7	CEBPB	chr6:61969518-61969668	H1-hESC	embryonic stem cell:	n/a	chr6:61969551-61969564
8	CTCF	chr6:62048466-62048563	GM10248	blood:	n/a	n/a
9	CTCF	chr6:61962009-61962072	LNCaP	prostate:	n/a	n/a
10	CTCF	chr6:62115050-62115154	Lung_OC	lung:	n/a	n/a
11	CTCF	chr6:62089607-62089695	GM20000	blood:	n/a	n/a
12	CTCF	chr6:61948610-61948702	GM10266	blood:	n/a	n/a
13	CTCF	chr6:62036878-62037004	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr6:62059520-62059670	GM12864	blood:	n/a	n/a
15	CTCF	chr6:62036880-62037030	NB4	blood:	n/a	n/a
16	CTCF	chr6:62005280-62005430	NHEK	skin:	n/a	n/a
17	CTCF	chr6:62068940-62068973	GM20000	blood:	n/a	n/a
18	CTCF	chr6:62036800-62036950	NHEK	skin:	n/a	n/a
19	CTCF	chr6:62049351-62049401	LNCaP	prostate:	n/a	n/a
20	CTCF	chr6:62094880-62094936	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr6:62036968-62037015	K562	blood:	n/a	n/a
22	CTCF	chr6:62036942-62036990	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:62033311-62033388	MCF-7	breast:	n/a	n/a
24	CTCF	chr6:62093469-62093502	Lung_OC	lung:	n/a	n/a
25	CTCF	chr6:61946676-61946781	GM13976	blood:	n/a	n/a
26	CTCF	chr6:62036900-62037050	HEK293	kidney:	n/a	n/a
27	CTCF	chr6:62089642-62089675	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr6:62095120-62095218	GM20000	blood:	n/a	n/a
29	CTCF	chr6:62036906-62037017	NHEK	skin:	n/a	n/a
30	CTCF	chr6:62036880-62037030	NHEK	skin:	n/a	n/a
31	CTCF	chr6:62036958-62036963	MCF-7	breast:	n/a	n/a
32	CTCF	chr6:62074050-62074138	Fibrobl	skin:	n/a	n/a
33	CTCF	chr6:62036926-62036954	MCF-7	breast:	n/a	n/a
34	FOXA1	chr6:62074307-62074658	HepG2	liver:	n/a	n/a
35	FOXA1	chr6:61961008-61961295	HepG2	liver:	n/a	n/a
36	FOXA2	chr6:62074162-62074613	A549	lung:	n/a	n/a
37	GATA2	chr6:62000206-62000623	SH-SY5Y	brain:	n/a	n/a
38	JUN	chr6:61978242-61978340	K562	blood:	n/a	n/a
39	JUND	chr6:61997029-61997209	HepG2	liver:	n/a	chr6:61997126-61997137
40	KAP1	chr6:62026772-62027129	U2OS	brain:	n/a	n/a
41	KAP1	chr6:62026733-62027175	HEK293	kidney:	n/a	n/a
42	MAFF	chr6:62032422-62032624	HepG2	liver:	n/a	chr6:62032465-62032483 chr6:62032484-62032502
43	MAFF	chr6:61958690-61958883	HepG2	liver:	n/a	chr6:61958789-61958807
44	MAFF	chr6:61956179-61956379	HepG2	liver:	n/a	chr6:61956293-61956311
45	MAFF	chr6:61996981-61997205	HepG2	liver:	n/a	chr6:61997086-61997104
46	MAFK	chr6:61992125-61992136	HepG2	liver:	n/a	n/a
47	MAFK	chr6:61958674-61958869	HepG2	liver:	n/a	n/a
48	MAFK	chr6:61996205-61996429	HepG2	liver:	n/a	n/a
49	MAFK	chr6:62032344-62032544	HepG2	liver:	n/a	chr6:62032467-62032482
50	MAFK	chr6:61956178-61956396	IMR90	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KHDRBS2-4	chr6:61996403-61996816	NONHSAT113326

Variant related genes	Relation type
ENSG00000221606	TF binding region
ENSG00000220030	TF binding region

Extended variants
information (count: 1871 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1871 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4416710	chr6:61920533-61920534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557055004	chr6:61920540-61920541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528867072	chr6:61920548-61920549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550578912	chr6:61920558-61920559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142767412	chr6:61920560-61920561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545221664	chr6:61920562-61920563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371404872	chr6:61920574-61920575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375842569	chr6:61920594-61920595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386701833	chr6:61920600-61920601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544671474	chr6:61921610-61921611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs180755351	chr6:61921621-61921622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144809000	chr6:61921648-61921649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552781766	chr6:61921659-61921660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556206180	chr6:61921678-61921679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148558628	chr6:61921702-61921703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561014773	chr6:61921718-61921719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558197101	chr6:61921720-61921721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs187308462	chr6:61921727-61921728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553764554	chr6:61921732-61921733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572075822	chr6:61921778-61921779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs578049641	chr6:61921790-61921791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372215400	chr6:61921818-61921819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371274160	chr6:61921828-61921829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561468239	chr6:61921854-61921855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576564943	chr6:61921871-61921872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs9500676	chr6:61921891-61921892	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372734338	chr6:61921911-61921912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377296478	chr6:61921920-61921921	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114597557	chr6:61921933-61921934	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560169423	chr6:61921934-61921935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs529125100	chr6:61921979-61921980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146630263	chr6:61921985-61921986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75648947	chr6:61921990-61921991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs192241044	chr6:61922010-61922011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201646580	chr6:61922016-61922017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs184639094	chr6:61922036-61922037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531316425	chr6:61922054-61922055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538019739	chr6:61922070-61922071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551029362	chr6:61922073-61922074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112812702	chr6:61922094-61922095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571479287	chr6:61922100-61922101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs538693636	chr6:61922113-61922114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs143557039	chr6:61922122-61922123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112766592	chr6:61922129-61922130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555223792	chr6:61922155-61922156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs79516779	chr6:61922197-61922198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs79548667	chr6:61922200-61922201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs75765351	chr6:61922201-61922202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs76042756	chr6:61922213-61922214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78329007	chr6:61922215-61922216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Tetralogy of Fallot	22912587	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:61914400-61920600	Weak transcription	K562	blood
2	chr6:61921600-61922800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:61926200-61928200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr6:61926800-61927000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr6:61927200-61927600	Active TSS	Aorta	Aorta
6	chr6:61939000-61940200	ZNF genes & repeats	Liver	Liver
7	chr6:61939200-61939800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:61939400-61943200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr6:61941400-61942800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr6:61953000-61954200	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr6:61953200-61953600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr6:61953200-61953600	Active TSS	Brain Cingulate Gyrus	brain
13	chr6:61957000-61957200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr6:62020400-62021000	Active TSS	Fetal Heart	heart
15	chr6:62032200-62033600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:62032200-62033800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:62033200-62033400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:62038800-62039200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:62043800-62045000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:62044800-62045400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:62054800-62055000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:62055000-62059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:62059400-62059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:62059400-62060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:62059400-62060000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:62059400-62060000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:62059600-62059800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:62059800-62065200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:62062200-62062600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:62074000-62074400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:62088000-62088800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:62088200-62088600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:62103400-62103600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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