Variant report

Variant	esv11866
Chromosome Location	chr7:65498683-65500497
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	ARID3A	chr7:65499195-65499378	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:65498405-65498734	HepG2	liver:	n/a	n/a
3	ATF1	chr7:65498688-65498721	K562	blood:	n/a	n/a
4	CEBPB	chr7:65498361-65498698	A549	lung:	n/a	chr7:65498508-65498517 chr7:65498506-65498517 chr7:65498507-65498518
5	CEBPB	chr7:65498341-65498683	K562	blood:	n/a	chr7:65498508-65498517 chr7:65498506-65498517 chr7:65498507-65498518
6	CEBPB	chr7:65498411-65498721	A549	lung:	n/a	chr7:65498508-65498517 chr7:65498506-65498517 chr7:65498507-65498518
7	CEBPB	chr7:65499495-65499857	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr7:65498362-65498704	HepG2	liver:	n/a	chr7:65498508-65498517 chr7:65498506-65498517 chr7:65498507-65498518
9	CEBPB	chr7:65498378-65498860	Hela-S3	cervix:	n/a	chr7:65498508-65498517 chr7:65498506-65498517 chr7:65498507-65498518
10	CEBPB	chr7:65498337-65498843	IMR90	lung:	n/a	chr7:65498508-65498517 chr7:65498506-65498517 chr7:65498507-65498518
11	CTCF	chr7:65498716-65498798	GM20000	blood:	n/a	n/a
12	EP300	chr7:65499371-65499765	Hela-S3	cervix:	n/a	n/a
13	EP300	chr7:65498426-65498876	Hela-S3	cervix:	n/a	chr7:65498552-65498566
14	EP300	chr7:65498325-65500038	SK-N-SH_RA	brain:	n/a	chr7:65498552-65498566
15	EP300	chr7:65498341-65499926	SK-N-SH_RA	brain:	n/a	chr7:65498552-65498566
16	EP300	chr7:65499366-65499830	SK-N-SH	brain:	n/a	n/a
17	EP300	chr7:65497163-65500235	SK-N-SH	brain:	n/a	chr7:65498552-65498566 chr7:65497304-65497318
18	FOS	chr7:65498635-65498828	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr7:65499090-65499471	HepG2	liver:	n/a	n/a
20	FOXA1	chr7:65499021-65499479	HepG2	liver:	n/a	n/a
21	FOXA2	chr7:65499156-65499468	HepG2	liver:	n/a	n/a
22	GATA2	chr7:65498403-65499817	SH-SY5Y	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
23	GATA3	chr7:65498906-65499996	SK-N-SH	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
24	GATA3	chr7:65498842-65499818	SK-N-SH	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
25	GATA3	chr7:65498451-65499768	SH-SY5Y	brain:	n/a	chr7:65499399-65499408 chr7:65499498-65499505 chr7:65498953-65498966
26	MAFF	chr7:65499075-65499333	HepG2	liver:	n/a	n/a
27	MAFK	chr7:65499043-65499336	HepG2	liver:	n/a	n/a
28	MAFK	chr7:65498993-65499314	IMR90	lung:	n/a	n/a
29	MAFK	chr7:65499016-65499313	HepG2	liver:	n/a	n/a
30	MAFK	chr7:65498979-65499585	Hela-S3	cervix:	n/a	n/a
31	NFIC	chr7:65498842-65499811	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr7:65499292-65499779	SK-N-SH	brain:	n/a	n/a
33	PBX3	chr7:65499313-65499808	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr7:65499522-65499873	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr7:65498789-65498939	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:65498698-65499025	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr7:65499847-65499962	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr7:65499367-65499938	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr7:65498549-65499148	SK-N-SH	brain:	n/a	n/a
40	RAD21	chr7:65499584-65499708	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr7:65498517-65498841	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr7:65498379-65498745	SK-N-SH_RA	brain:	n/a	n/a
43	RAD21	chr7:65499456-65499804	SK-N-SH_RA	brain:	n/a	n/a
44	RAD21	chr7:65498757-65499244	SK-N-SH_RA	brain:	n/a	n/a
45	RAD21	chr7:65499392-65499847	SK-N-SH_RA	brain:	n/a	n/a
46	RAD21	chr7:65498392-65499259	SK-N-SH_RA	brain:	n/a	n/a
47	REST	chr7:65499512-65499832	SK-N-SH	brain:	n/a	n/a
48	REST	chr7:65498545-65499050	SK-N-SH	brain:	n/a	n/a
49	SMC3	chr7:65498524-65498699	Hela-S3	cervix:	n/a	n/a
50	SMC3	chr7:65499511-65499714	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000229886	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112857688	chr7:65498700-65498701	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577460454	chr7:65498707-65498708	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530929716	chr7:65498753-65498754	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs10233953	chr7:65498941-65498942	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs376520304	chr7:65499008-65499009	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185789646	chr7:65499060-65499061	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs549909910	chr7:65499100-65499101	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79805430	chr7:65499101-65499102	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs313806	chr7:65499211-65499212	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs529885676	chr7:65499217-65499218	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs142826368	chr7:65499222-65499223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566228778	chr7:65499225-65499226	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552177266	chr7:65499239-65499240	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532117386	chr7:65499282-65499283	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs551866171	chr7:65499299-65499300	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs568467249	chr7:65499307-65499308	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572184770	chr7:65499344-65499345	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs190250124	chr7:65499352-65499353	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs555227863	chr7:65499392-65499393	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181257446	chr7:65499408-65499409	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534400003	chr7:65499443-65499444	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554446574	chr7:65499457-65499458	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577520532	chr7:65499459-65499460	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs313807	chr7:65499481-65499482	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs556713931	chr7:65499506-65499507	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576349116	chr7:65499514-65499515	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541895416	chr7:65499520-65499521	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs116977899	chr7:65499527-65499528	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs185356281	chr7:65499536-65499537	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs138876368	chr7:65499547-65499548	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34131803	chr7:65499548-65499549	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs398111427	chr7:65499556-65499557	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs540031430	chr7:65499580-65499581	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190796926	chr7:65499596-65499597	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs151033548	chr7:65499604-65499605	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs73372701	chr7:65499678-65499679	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557482826	chr7:65499685-65499686	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141013795	chr7:65499750-65499751	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs28638468	chr7:65499831-65499832	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs313808	chr7:65499873-65499874	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs150206254	chr7:65499883-65499884	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs534183631	chr7:65499944-65499945	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs554506202	chr7:65499948-65499949	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373112553	chr7:65499956-65499957	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs313809	chr7:65499983-65499984	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs556681397	chr7:65499987-65499988	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs111774624	chr7:65500025-65500026	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs34237909	chr7:65500026-65500027	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs75003326	chr7:65500027-65500028	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs188943453	chr7:65500072-65500073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65492800-65502000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:65493400-65500000	Weak transcription	Lung	lung
3	chr7:65495400-65498800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:65497400-65502200	Enhancers	Liver	Liver
5	chr7:65498400-65499200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:65498400-65499200	Enhancers	Osteobl	bone
7	chr7:65498400-65499600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:65498400-65499600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:65498400-65499800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:65498400-65499800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:65498400-65499800	Enhancers	HepG2	liver
12	chr7:65498400-65499800	Enhancers	NHDF-Ad	bronchial
13	chr7:65498400-65499800	Enhancers	NHLF	lung
14	chr7:65498400-65500000	Enhancers	Hela-S3	cervix
15	chr7:65498600-65499000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:65498600-65499400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:65498800-65499200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:65499000-65499600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:65499200-65500000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:65499200-65500600	Enhancers	Fetal Lung	lung
21	chr7:65499200-65508200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:65499200-65508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:65499400-65499600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:65499600-65500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:65499600-65508600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:65499800-65501400	Weak transcription	HepG2	liver
27	chr7:65499800-65504200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:65500000-65500400	Enhancers	Pancreas	Pancrea
29	chr7:65500000-65500800	Enhancers	Lung	lung
30	chr7:65500000-65501400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:65500200-65500400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:65500400-65504200	Weak transcription	Pancreas	Pancrea

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