Variant report

Variant	nsv970177
Chromosome Location	chr6:150363670-150364670
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	FOXA1	chr6:150363798-150364127	HepG2	liver:	n/a	n/a
2	FOXA1	chr6:150363828-150363982	T-47D	breast:	n/a	n/a
3	FOXA1	chr6:150363652-150364202	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:150363772-150364113	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:150363706-150364057	HepG2	liver:	n/a	n/a
6	FOXA2	chr6:150363782-150364004	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:150364031-150364262	K562	blood:	n/a	n/a
8	POLR2A	chr6:150364440-150364451	MCF-7	breast:	n/a	n/a
9	POLR2A	chr6:150364353-150364434	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
PHBP1	TF binding region
ENSG00000235972	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12662452	chr6:150363672-150363673	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184138608	chr6:150363709-150363710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538912702	chr6:150363714-150363715	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558845751	chr6:150363755-150363756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs572727386	chr6:150363778-150363779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576232796	chr6:150363801-150363802	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs149599041	chr6:150363817-150363818	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114650513	chr6:150363856-150363857	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs574444984	chr6:150363868-150363869	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543506338	chr6:150363910-150363911	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs115118634	chr6:150363920-150363921	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs576926670	chr6:150363933-150363934	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546088952	chr6:150363954-150363955	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs541502333	chr6:150363974-150363975	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs190234708	chr6:150363975-150363976	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528419407	chr6:150364007-150364008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs644866	chr6:150364009-150364010	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs111728783	chr6:150364010-150364011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs561925205	chr6:150364016-150364017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565255445	chr6:150364021-150364022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs530100356	chr6:150364022-150364023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549880660	chr6:150364029-150364030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569687300	chr6:150364044-150364045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181495187	chr6:150364056-150364057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs571831438	chr6:150364077-150364078	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs552188202	chr6:150364078-150364079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs553147012	chr6:150364079-150364080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111930067	chr6:150364101-150364102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs3903885	chr6:150364128-150364129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554816878	chr6:150364148-150364149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187022385	chr6:150364166-150364167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535749147	chr6:150364179-150364180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs116702890	chr6:150364181-150364182	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs376330545	chr6:150364182-150364183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs191858359	chr6:150364183-150364184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7747300	chr6:150364226-150364227	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112797377	chr6:150364387-150364388	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530754891	chr6:150364405-150364406	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550389046	chr6:150364412-150364413	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs563426256	chr6:150364419-150364420	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs532511949	chr6:150364420-150364421	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs563278	chr6:150364427-150364428	Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116303358	chr6:150364441-150364442	Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs528739230	chr6:150364453-150364454	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs115378007	chr6:150364463-150364464	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs116787350	chr6:150364466-150364467	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs563011341	chr6:150364478-150364479	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs142281356	chr6:150364489-150364490	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs376201678	chr6:150364499-150364500	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs539544311	chr6:150364516-150364517	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Autism	21448237	CNVD
Autism	22495311	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
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150363800-150364000	Bivalent Enhancer	HepG2	liver
2	chr6:150364400-150364600	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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