Variant report

Variant	nsv830671
Chromosome Location	chr6:61998031-62181213
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	chr6:62056057-62056321	HepG2	liver:	n/a	chr6:62056191-62056202
3	CEBPB	chr6:62056047-62056342	IMR90	lung:	n/a	chr6:62056191-62056202
4	CEBPB	chr6:62110212-62110414	HepG2	liver:	n/a	chr6:62110257-62110268
5	CEBPB	chr6:62056159-62056270	A549	lung:	n/a	chr6:62056191-62056202
6	CTCF	chr6:62036880-62037030	NB4	blood:	n/a	n/a
7	CTCF	chr6:62089607-62089695	GM20000	blood:	n/a	n/a
8	CTCF	chr6:62036958-62036963	MCF-7	breast:	n/a	n/a
9	CTCF	chr6:62005280-62005430	NHEK	skin:	n/a	n/a
10	CTCF	chr6:62036968-62037015	K562	blood:	n/a	n/a
11	CTCF	chr6:62036800-62036950	NHEK	skin:	n/a	n/a
12	CTCF	chr6:62036942-62036990	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:62074050-62074138	Fibrobl	skin:	n/a	n/a
14	CTCF	chr6:62033311-62033388	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:62089642-62089675	Spleen_OC	spleen:	n/a	n/a
16	CTCF	chr6:62125553-62125611	GM13977	blood:	n/a	n/a
17	CTCF	chr6:62115050-62115154	Lung_OC	lung:	n/a	n/a
18	CTCF	chr6:62048466-62048563	GM10248	blood:	n/a	n/a
19	CTCF	chr6:62120455-62120486	GM10248	blood:	n/a	n/a
20	CTCF	chr6:62123309-62123350	GM10266	blood:	n/a	n/a
21	CTCF	chr6:62049351-62049401	LNCaP	prostate:	n/a	n/a
22	CTCF	chr6:62036880-62037030	NHEK	skin:	n/a	n/a
23	CTCF	chr6:62059520-62059670	GM12864	blood:	n/a	n/a
24	CTCF	chr6:62125022-62125119	GM20000	blood:	n/a	n/a
25	CTCF	chr6:62117052-62117116	GM10248	blood:	n/a	n/a
26	CTCF	chr6:62036900-62037050	HEK293	kidney:	n/a	n/a
27	CTCF	chr6:62036906-62037017	NHEK	skin:	n/a	n/a
28	CTCF	chr6:62036878-62037004	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr6:62036926-62036954	MCF-7	breast:	n/a	n/a
30	CTCF	chr6:62094880-62094936	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr6:62068940-62068973	GM20000	blood:	n/a	n/a
32	CTCF	chr6:62093469-62093502	Lung_OC	lung:	n/a	n/a
33	CTCF	chr6:62095120-62095218	GM20000	blood:	n/a	n/a
34	FOXA1	chr6:62074307-62074658	HepG2	liver:	n/a	n/a
35	FOXA2	chr6:62074162-62074613	A549	lung:	n/a	n/a
36	GABPA	chr6:62178982-62179170	Hela-S3	cervix:	n/a	n/a
37	GATA2	chr6:62000206-62000623	SH-SY5Y	brain:	n/a	n/a
38	JUN	chr6:62178810-62178971	H1-hESC	embryonic stem cell:	n/a	n/a
39	KAP1	chr6:62179809-62180597	HEK293	kidney:	n/a	n/a
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	MAFK	chr6:62032346-62032527	IMR90	lung:	n/a	chr6:62032467-62032482
44	MAFK	chr6:62016980-62017112	HepG2	liver:	n/a	chr6:62017014-62017028 chr6:62017015-62017026
45	MAFK	chr6:62032344-62032544	HepG2	liver:	n/a	chr6:62032467-62032482
46	MAFK	chr6:62032362-62032633	HepG2	liver:	n/a	chr6:62032467-62032482
47	MYC	chr6:62063568-62063618	K562	blood:	n/a	n/a
48	MYC	chr6:62113254-62113310	K562	blood:	n/a	n/a
49	NRF1	chr6:62024120-62024286	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr6:62069280-62069411	MCF10A-Er-Src	breast:	n/a	n/a

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

Extended variants
information (count: 1366 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114771725	chr6:62000222-62000223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs560025550	chr6:62000235-62000236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs192569475	chr6:62000236-62000237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs538352059	chr6:62000264-62000265	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548845908	chr6:62000265-62000266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146721054	chr6:62000284-62000285	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs113491069	chr6:62000299-62000300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79012664	chr6:62000310-62000311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184399247	chr6:62000312-62000313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187770339	chr6:62000338-62000339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535052314	chr6:62000340-62000341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs192444201	chr6:62000351-62000352	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185038026	chr6:62000352-62000353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536144025	chr6:62000360-62000361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs570629064	chr6:62000361-62000362	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs28878311	chr6:62000394-62000395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs140419624	chr6:62000397-62000398	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1832201	chr6:62000405-62000406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189030702	chr6:62000414-62000415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs558645392	chr6:62000415-62000416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572830259	chr6:62000427-62000428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549279998	chr6:62000440-62000441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs576744717	chr6:62000462-62000463	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs6592886	chr6:62000498-62000499	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114515945	chr6:62000524-62000525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs575147797	chr6:62000526-62000527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542556500	chr6:62000534-62000535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs7745818	chr6:62000537-62000538	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531159518	chr6:62000551-62000552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs192993032	chr6:62000553-62000554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184693139	chr6:62000577-62000578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375216707	chr6:62000587-62000588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189647440	chr6:62000592-62000593	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs546926564	chr6:62000601-62000602	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568122682	chr6:62000605-62000606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs77077889	chr6:62000617-62000618	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs9378077	chr6:62020400-62020401	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs535534214	chr6:62020407-62020408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556736946	chr6:62020440-62020441	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs575310925	chr6:62020454-62020455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185047985	chr6:62020468-62020469	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs17151452	chr6:62020474-62020475	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs557356860	chr6:62020485-62020486	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573182156	chr6:62020500-62020501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs78606585	chr6:62020506-62020507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs72874193	chr6:62020524-62020525	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs561941679	chr6:62020532-62020533	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs574102816	chr6:62020577-62020578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs371504553	chr6:62020580-62020581	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544799018	chr6:62020593-62020594	Active TSS	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
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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:25 , 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
20	chr6:62103400-62103600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:62178600-62179800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr6:62178600-62180600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr6:62178600-62182000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:62178800-62182400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr6:62179000-62180400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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