Variant report

Variant	esv2752128
Chromosome Location	chr6:61972225-62095766
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	chr6:61996403-61996623	HepG2	liver:	n/a	chr6:61996495-61996506
2	CEBPB	chr6:62056159-62056270	A549	lung:	n/a	chr6:62056191-62056202
3	CEBPB	chr6:62056047-62056342	IMR90	lung:	n/a	chr6:62056191-62056202
4	CEBPB	chr6:62046921-62047170	HepG2	liver:	n/a	chr6:62047060-62047073 chr6:62047060-62047073 chr6:62047062-62047071 chr6:62047060-62047071 chr6:62047062-62047073
5	CEBPB	chr6:62056057-62056321	HepG2	liver:	n/a	chr6:62056191-62056202
6	CTCF	chr6:62036958-62036963	MCF-7	breast:	n/a	n/a
7	CTCF	chr6:62036900-62037050	HEK293	kidney:	n/a	n/a
8	CTCF	chr6:62033311-62033388	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:62036968-62037015	K562	blood:	n/a	n/a
10	CTCF	chr6:62036906-62037017	NHEK	skin:	n/a	n/a
11	CTCF	chr6:62059520-62059670	GM12864	blood:	n/a	n/a
12	CTCF	chr6:62089607-62089695	GM20000	blood:	n/a	n/a
13	CTCF	chr6:62089642-62089675	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr6:62036942-62036990	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:62036880-62037030	NB4	blood:	n/a	n/a
16	CTCF	chr6:62036880-62037030	NHEK	skin:	n/a	n/a
17	CTCF	chr6:62068940-62068973	GM20000	blood:	n/a	n/a
18	CTCF	chr6:62095120-62095218	GM20000	blood:	n/a	n/a
19	CTCF	chr6:62036800-62036950	NHEK	skin:	n/a	n/a
20	CTCF	chr6:62048466-62048563	GM10248	blood:	n/a	n/a
21	CTCF	chr6:62074050-62074138	Fibrobl	skin:	n/a	n/a
22	CTCF	chr6:62049351-62049401	LNCaP	prostate:	n/a	n/a
23	CTCF	chr6:62094880-62094936	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr6:62036926-62036954	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:62093469-62093502	Lung_OC	lung:	n/a	n/a
26	CTCF	chr6:62036878-62037004	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr6:62005280-62005430	NHEK	skin:	n/a	n/a
28	FOXA1	chr6:62074307-62074658	HepG2	liver:	n/a	n/a
29	FOXA2	chr6:62074162-62074613	A549	lung:	n/a	n/a
30	GATA2	chr6:62000206-62000623	SH-SY5Y	brain:	n/a	n/a
31	JUN	chr6:61978242-61978340	K562	blood:	n/a	n/a
32	JUND	chr6:61997029-61997209	HepG2	liver:	n/a	chr6:61997126-61997137
33	KAP1	chr6:62026733-62027175	HEK293	kidney:	n/a	n/a
34	KAP1	chr6:62026772-62027129	U2OS	brain:	n/a	n/a
35	MAFF	chr6:61996981-61997205	HepG2	liver:	n/a	chr6:61997086-61997104
36	MAFF	chr6:62032422-62032624	HepG2	liver:	n/a	chr6:62032465-62032483 chr6:62032484-62032502
37	MAFK	chr6:61996951-61997240	HepG2	liver:	n/a	chr6:61997087-61997102
38	MAFK	chr6:62032344-62032544	HepG2	liver:	n/a	chr6:62032467-62032482
39	MAFK	chr6:62016980-62017112	HepG2	liver:	n/a	chr6:62017014-62017028 chr6:62017015-62017026
40	MAFK	chr6:61996205-61996429	HepG2	liver:	n/a	n/a
41	MAFK	chr6:61996975-61997226	HepG2	liver:	n/a	chr6:61997087-61997102
42	MAFK	chr6:62032346-62032527	IMR90	lung:	n/a	chr6:62032467-62032482
43	MAFK	chr6:61992125-61992136	HepG2	liver:	n/a	n/a
44	MAFK	chr6:62032362-62032633	HepG2	liver:	n/a	chr6:62032467-62032482
45	MYC	chr6:62063568-62063618	K562	blood:	n/a	n/a
46	NRF1	chr6:62024120-62024286	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr6:62031621-62031804	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr6:62078783-62078869	ProgFib	skin:	n/a	n/a
49	POLR2A	chr6:62025853-62026053	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr6:62087291-62087461	ProgFib	skin:	n/a	n/a

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

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

Extended variants
information (count: 1155 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1155 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536843614	chr6:61996421-61996422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs75553881	chr6:61996440-61996441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs576634159	chr6:61996480-61996481	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190298841	chr6:61996482-61996483	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142976979	chr6:61996485-61996486	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs151106282	chr6:61996500-61996501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs113910225	chr6:61996513-61996514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs371547048	chr6:61996550-61996551	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs530613077	chr6:61996551-61996552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs114117739	chr6:61996565-61996566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs117454668	chr6:61996570-61996571	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs180751687	chr6:61996574-61996575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs546529646	chr6:61996588-61996589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs564636626	chr6:61996591-61996592	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs373738851	chr6:61996603-61996604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs528705646	chr6:61996633-61996634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs116513515	chr6:61996649-61996650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs185986691	chr6:61996653-61996654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs553397396	chr6:61996680-61996681	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs78257682	chr6:61996697-61996698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs190914382	chr6:61996703-61996704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs568913081	chr6:61996705-61996706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs536903157	chr6:61996713-61996714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs184016761	chr6:61996714-61996715	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs144667051	chr6:61996741-61996742	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs80269294	chr6:61996765-61996766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552784675	chr6:61996781-61996782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs377609614	chr6:61996792-61996793	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs540861663	chr6:61997002-61997003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562038495	chr6:61997015-61997016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs557514199	chr6:61997019-61997020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs529339746	chr6:61997024-61997025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191591070	chr6:61997061-61997062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs147871415	chr6:61997065-61997066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533185992	chr6:61997077-61997078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs552041252	chr6:61997078-61997079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs555787418	chr6:61997081-61997082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570767136	chr6:61997087-61997088	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs141660664	chr6:61997163-61997164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs184922005	chr6:61997174-61997175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs542863205	chr6:61997221-61997222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs114771725	chr6:62000222-62000223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560025550	chr6:62000235-62000236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs192569475	chr6:62000236-62000237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs538352059	chr6:62000264-62000265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs548845908	chr6:62000265-62000266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs146721054	chr6:62000284-62000285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs113491069	chr6:62000299-62000300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs79012664	chr6:62000310-62000311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs184399247	chr6:62000312-62000313	Inactive region	TF binding region	1 gene(s)	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62020400-62021000	Active TSS	Fetal Heart	heart
2	chr6:62032200-62033600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:62032200-62033800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:62033200-62033400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:62038800-62039200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:62043800-62045000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:62044800-62045400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:62054800-62055000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:62055000-62059600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:62059400-62059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:62059400-62060000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:62059400-62060000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:62059400-62060000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:62059600-62059800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:62059800-62065200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:62062200-62062600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:62074000-62074400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:62088000-62088800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr6:62088200-62088600	Enhancers	H1 Cell Line	embryonic stem cell

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