Variant report

Variant	nsv1016530
Chromosome Location	chr7:53587780-53620090
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	BRCA1	chr7:53587799-53587809	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:53588391-53589005	A549	lung:	n/a	chr7:53588550-53588561 chr7:53588550-53588563 chr7:53588558-53588571 chr7:53588558-53588571 chr7:53588552-53588561 chr7:53588552-53588563
3	CEBPB	chr7:53587730-53588040	HepG2	liver:	n/a	chr7:53587881-53587892
4	CEBPB	chr7:53605901-53606229	A549	lung:	n/a	chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606060-53606073 chr7:53606060-53606071 chr7:53606062-53606071 chr7:53606062-53606073 chr7:53606060-53606073 chr7:53606060-53606073
5	CEBPB	chr7:53605950-53606150	H1-hESC	embryonic stem cell:	n/a	chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606060-53606073 chr7:53606060-53606071 chr7:53606062-53606071 chr7:53606062-53606073 chr7:53606060-53606073 chr7:53606060-53606073
6	CEBPB	chr7:53587750-53588037	A549	lung:	n/a	chr7:53587881-53587892
7	CEBPB	chr7:53587746-53588062	IMR90	lung:	n/a	chr7:53587881-53587892
8	CEBPB	chr7:53605943-53606177	MCF-7	breast:	n/a	chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606060-53606073 chr7:53606060-53606071 chr7:53606062-53606071 chr7:53606062-53606073 chr7:53606060-53606073 chr7:53606060-53606073
9	CEBPB	chr7:53588393-53588685	Hela-S3	cervix:	n/a	chr7:53588550-53588561 chr7:53588550-53588563 chr7:53588558-53588571 chr7:53588558-53588571 chr7:53588552-53588561 chr7:53588552-53588563
10	CEBPB	chr7:53605925-53606215	K562	blood:	n/a	chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606060-53606073 chr7:53606060-53606071 chr7:53606062-53606071 chr7:53606062-53606073 chr7:53606060-53606073 chr7:53606060-53606073
11	CEBPB	chr7:53605905-53606248	IMR90	lung:	n/a	chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606060-53606073 chr7:53606060-53606071 chr7:53606062-53606071 chr7:53606062-53606073 chr7:53606060-53606073 chr7:53606060-53606073
12	CEBPB	chr7:53609188-53609523	MCF-7	breast:	n/a	chr7:53609314-53609325 chr7:53609312-53609325
13	CEBPB	chr7:53587738-53588025	MCF-7	breast:	n/a	chr7:53587881-53587892
14	CEBPB	chr7:53605898-53606249	HepG2	liver:	n/a	chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606062-53606071 chr7:53606060-53606073 chr7:53606060-53606071 chr7:53606062-53606071 chr7:53606062-53606073 chr7:53606060-53606073 chr7:53606060-53606073
15	CEBPB	chr7:53588410-53588727	HepG2	liver:	n/a	chr7:53588550-53588561 chr7:53588550-53588563 chr7:53588558-53588571 chr7:53588558-53588571 chr7:53588552-53588561 chr7:53588552-53588563
16	CTCF	chr7:53615480-53615630	HMEC	breast:	n/a	n/a
17	CTCF	chr7:53601360-53601510	NHLF	lung:	n/a	n/a
18	CTCF	chr7:53615440-53615590	HMEC	breast:	n/a	n/a
19	CTCF	chr7:53615348-53615365	GM20000	blood:	n/a	n/a
20	E2F4	chr7:53609172-53609294	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr7:53609805-53610150	SK-N-SH_RA	brain:	n/a	n/a
22	EP300	chr7:53617587-53617607	GM12878	blood:	n/a	n/a
23	EP300	chr7:53608450-53610958	SK-N-SH	brain:	n/a	chr7:53609755-53609765 chr7:53609584-53609592 chr7:53609313-53609327 chr7:53608711-53608718
24	EP300	chr7:53609819-53610211	SK-N-SH_RA	brain:	n/a	n/a
25	GATA2	chr7:53589370-53589675	SH-SY5Y	brain:	n/a	n/a
26	GATA2	chr7:53609846-53610241	SH-SY5Y	brain:	n/a	n/a
27	GATA3	chr7:53609855-53610236	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr7:53604630-53604830	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:53607777-53607782	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr7:53603535-53603624	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr7:53615668-53615865	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr7:53609846-53610230	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr7:53609817-53610153	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr7:53589166-53589395	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr7:53599653-53599750	SH-SY5Y	brain:	n/a	n/a
36	GATA3	chr7:53608828-53609128	SH-SY5Y	brain:	n/a	chr7:53608908-53608918
37	GATA3	chr7:53590247-53590265	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr7:53596652-53596677	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr7:53589625-53589633	SH-SY5Y	brain:	n/a	n/a
40	IRF3	chr7:53596653-53596654	GM12878	blood:	n/a	n/a
41	JUN	chr7:53619936-53620126	K562	blood:	n/a	n/a
42	JUND	chr7:53602100-53602262	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFF	chr7:53607327-53607563	K562	blood:	n/a	chr7:53607433-53607451
44	MAFF	chr7:53607328-53607589	HepG2	liver:	n/a	chr7:53607433-53607451
45	MAFF	chr7:53606574-53606832	HepG2	liver:	n/a	chr7:53606686-53606704
46	MAFK	chr7:53607281-53607609	HepG2	liver:	n/a	chr7:53607435-53607446 chr7:53607435-53607451 chr7:53607436-53607447 chr7:53607435-53607450 chr7:53607435-53607446 chr7:53607434-53607448 chr7:53607436-53607447
47	MAFK	chr7:53588330-53588630	HepG2	liver:	n/a	n/a
48	MAFK	chr7:53607270-53607551	HepG2	liver:	n/a	chr7:53607435-53607446 chr7:53607435-53607451 chr7:53607436-53607447 chr7:53607435-53607450 chr7:53607435-53607446 chr7:53607434-53607448 chr7:53607436-53607447
49	MAFK	chr7:53606590-53606795	IMR90	lung:	n/a	chr7:53606736-53606747 chr7:53606736-53606752 chr7:53606735-53606749 chr7:53606737-53606748
50	MAFK	chr7:53606531-53606856	HepG2	liver:	n/a	chr7:53606736-53606747 chr7:53606736-53606752 chr7:53606735-53606749 chr7:53606737-53606748 chr7:53606588-53606602

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:53588403..53590353-chr7:53592550..53594897,2	K562	blood:
2	chr7:53588403..53590353-chr7:53592550..53594897,2	K562	blood:

Variant related genes	Relation type
ENSG00000234105	TF binding region

Extended variants
information (count: 459 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10247653	chr7:53587780-53587781	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73116840	chr7:53587807-53587808	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191836742	chr7:53587825-53587826	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147953179	chr7:53587843-53587844	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141905850	chr7:53587889-53587890	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577782142	chr7:53587894-53587895	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs531835277	chr7:53587900-53587901	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs75665414	chr7:53587941-53587942	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs10250977	chr7:53587951-53587952	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529513453	chr7:53587979-53587980	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs11977153	chr7:53587986-53587987	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566063870	chr7:53588022-53588023	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369107717	chr7:53588037-53588038	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs533543600	chr7:53588084-53588085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558571578	chr7:53588114-53588115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56374829	chr7:53588130-53588131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537958191	chr7:53588180-53588181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183984031	chr7:53588227-53588228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55669633	chr7:53588290-53588291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs188875061	chr7:53588302-53588303	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540551583	chr7:53588360-53588361	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554093298	chr7:53588361-53588362	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs562442312	chr7:53588410-53588411	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs79992015	chr7:53588414-53588415	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192713778	chr7:53588431-53588432	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs529577750	chr7:53588432-53588433	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs145716349	chr7:53588448-53588449	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs114746530	chr7:53588480-53588481	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs182341377	chr7:53588539-53588540	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs113024989	chr7:53588631-53588632	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs116958253	chr7:53588632-53588633	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547622481	chr7:53588644-53588645	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533213891	chr7:53588673-53588674	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs4520117	chr7:53588687-53588688	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2330529	chr7:53588697-53588698	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533682842	chr7:53588743-53588744	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551848923	chr7:53588751-53588752	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs186867771	chr7:53588766-53588767	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs537518454	chr7:53588811-53588812	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs76829213	chr7:53588829-53588830	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs191699722	chr7:53588866-53588867	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs184242860	chr7:53588915-53588916	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs147773296	chr7:53589049-53589050	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs562072578	chr7:53589073-53589074	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs572205417	chr7:53589111-53589112	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs116866136	chr7:53589206-53589207	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140158128	chr7:53589219-53589220	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs74356275	chr7:53589233-53589234	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs6958150	chr7:53589254-53589255	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs117718510	chr7:53589320-53589321	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cognitive impairment	21505072	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53587200-53589600	Enhancers	Placenta	Placenta
2	chr7:53598000-53605400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:53607800-53610000	Enhancers	Liver	Liver
4	chr7:53609400-53609800	Enhancers	Colon Smooth Muscle	Colon
5	chr7:53610400-53610800	Bivalent Enhancer	Fetal Brain Male	brain

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