Variant report

Variant	esv3375922
Chromosome Location	chr7:64533067-64535365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:98)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:98 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:64533789-64533813	MCF10A-Er-Src	breast:	n/a	n/a
2	FOSL2	chr7:64533361-64534012	HepG2	liver:	n/a	n/a
3	FOSL2	chr7:64533417-64534048	HepG2	liver:	n/a	n/a
4	FOSL2	chr7:64535109-64535661	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:64533676-64534026	HepG2	liver:	n/a	n/a
6	FOXA1	chr7:64533300-64534075	HepG2	liver:	n/a	n/a
7	FOXA1	chr7:64533678-64534060	HepG2	liver:	n/a	n/a
8	FOXA2	chr7:64533705-64533937	HepG2	liver:	n/a	n/a
9	GATA2	chr7:64533547-64533870	K562	blood:	n/a	n/a
10	HEY1	chr7:64534586-64535488	HepG2	liver:	n/a	n/a
11	HEY1	chr7:64533236-64534136	HepG2	liver:	n/a	n/a
12	JUN	chr7:64533617-64533805	HepG2	liver:	n/a	n/a
13	JUN	chr7:64533629-64533805	K562	blood:	n/a	n/a
14	JUND	chr7:64533503-64533974	HepG2	liver:	n/a	n/a
15	JUND	chr7:64533551-64533907	HepG2	liver:	n/a	n/a
16	JUND	chr7:64533604-64533822	HepG2	liver:	n/a	n/a
17	JUND	chr7:64533607-64533829	K562	blood:	n/a	n/a
18	JUND	chr7:64535178-64535605	HepG2	liver:	n/a	n/a
19	MYBL2	chr7:64533242-64534212	HepG2	liver:	n/a	n/a
20	MYBL2	chr7:64533466-64534014	HepG2	liver:	n/a	n/a
21	MYC	chr7:64535273-64535425	MCF-7	breast:	n/a	n/a
22	MYC	chr7:64535198-64535441	MCF-7	breast:	n/a	n/a
23	POLR2A	chr7:64534797-64535462	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:64534996-64535475	GM12891	blood:	n/a	n/a
25	POLR2A	chr7:64533441-64533897	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr7:64535241-64535259	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:64534757-64535664	MCF-7	breast:	n/a	n/a
28	POLR2A	chr7:64535156-64535450	A549	lung:	n/a	n/a
29	POLR2A	chr7:64534966-64535732	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr7:64533418-64533685	MCF-7	breast:	n/a	n/a
31	POLR2A	chr7:64535232-64535454	MCF-7	breast:	n/a	n/a
32	POLR2A	chr7:64535105-64535462	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr7:64533443-64534159	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:64533374-64533392	MCF-7	breast:	n/a	n/a
35	POLR2A	chr7:64534659-64535687	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:64533459-64533931	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr7:64533149-64533861	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr7:64534835-64536376	HepG2	liver:	n/a	n/a
39	POLR2A	chr7:64534614-64535779	GM12892	blood:	n/a	n/a
40	POLR2A	chr7:64533816-64533847	MCF-7	breast:	n/a	n/a
41	POLR2A	chr7:64535139-64535630	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr7:64535159-64535635	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:64533901-64534003	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr7:64535338-64535339	A549	lung:	n/a	n/a
45	POLR2A	chr7:64533490-64534379	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr7:64533318-64534301	HepG2	liver:	n/a	n/a
47	POLR2A	chr7:64533934-64534409	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr7:64533538-64533693	HepG2	liver:	n/a	n/a
49	POLR2A	chr7:64535262-64535442	MCF-7	breast:	n/a	n/a
50	POLR2A	chr7:64533491-64533932	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64533826-64533876	HAEpiC	amniotic membrane:	n/a
2	chr7:64533826-64533876	SKMC	muscle:	n/a
3	chr7:64533826-64533876	IMR90	lung:	fetal
4	chr7:64533826-64533876	BJ	skin:	n/a
5	chr7:64533826-64533876	GM12891	blood:	n/a
6	chr7:64533826-64533876	AG10803	skin:	n/a
7	chr7:64533826-64533876	SK-N-SH	brain:	n/a
8	chr7:64533826-64533876	HNPCEpiC	eye:	n/a
9	chr7:64533826-64533876	HCPEpiC	choroid plexus:	n/a
10	chr7:64533826-64533876	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:64533826-64533876	HCT-116	colon:	n/a
12	chr7:64533826-64533876	K562	blood:	n/a
13	chr7:64533826-64533876	HUVEC	blood vessel:	n/a
14	chr7:64533826-64533876	MCF-7	breast:	n/a
15	chr7:64533826-64533876	SK-N-SH_RA	brain:	n/a
16	chr7:64533826-64533876	ProgFib	skin:	n/a
17	chr7:64533826-64533876	T-47D	breast:	n/a
18	chr7:64533826-64533876	HCF	heart:	n/a
19	chr7:64533826-64533876	HRCEpiC	kidney:	n/a
20	chr7:64533826-64533876	AG09309	skin:	n/a
21	chr7:64533826-64533876	GM19239	blood:	n/a
22	chr7:64533826-64533876	GM06990	blood:	n/a
23	chr7:64533826-64533876	MCF10A-Er-Src	breast:	n/a
24	chr7:64533826-64533876	AG04450	lung:	fetal
25	chr7:64533826-64533876	HRPEpiC	eye:	n/a
26	chr7:64533826-64533876	HMEC	breast:	n/a
27	chr7:64533826-64533876	ovcar-3	ovarian:	n/a
28	chr7:64533826-64533876	RPTEC	kidney:	n/a
29	chr7:64533826-64533876	A549	lung:	n/a
30	chr7:64533826-64533876	PrEC	prostate:	n/a
31	chr7:64533826-64533876	HepG2	liver:	n/a
32	chr7:64533826-64533876	GM12878	blood:	n/a
33	chr7:64533826-64533876	NHDF-neo	bronchial:	n/a
34	chr7:64533826-64533876	Jurkat	blood:	n/a
35	chr7:64533826-64533876	HEK293	kidney:	embryo
36	chr7:64533826-64533876	HRE	kidney:	n/a
37	chr7:64533826-64533876	NH-A	brain:	n/a
38	chr7:64533826-64533876	NB4	blood:	n/a
39	chr7:64533826-64533876	Hela-S3	cervix:	n/a
40	chr7:64533826-64533876	NHBE	bronchial:	n/a
41	chr7:64533826-64533876	HCM	heart:	n/a
42	chr7:64533826-64533876	CMK	blood:	n/a
43	chr7:64533826-64533876	SK-N-MC	brain:	n/a
44	chr7:64533826-64533876	LNCaP	prostate:	n/a
45	chr7:64533826-64533876	BE2_C	brain:	n/a
46	chr7:64533826-64533876	Hepatocyte	liver:	n/a
47	chr7:64533826-64533876	ECC-1	luminal epithelium:	n/a
48	chr7:64533826-64533876	HL-60	blood:	n/a
49	chr7:64533826-64533876	NT2-D1	testis:	n/a
50	chr7:64533826-64533876	AG04449	skin:	fetal

No data

Variant related genes	Relation type
ENSG00000227113	TF binding region
ENSG00000227113	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530000718	chr7:64533235-64533236	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546958311	chr7:64533246-64533247	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376676839	chr7:64533635-64533636	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs538209002	chr7:64533648-64533649	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs62457191	chr7:64533680-64533681	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552159767	chr7:64533709-64533710	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1524827	chr7:64533773-64533774	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537571856	chr7:64533789-64533790	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs554717741	chr7:64533820-64533821	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs574723325	chr7:64533827-64533828	Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs373997405	chr7:64533943-64533944	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1524826	chr7:64533967-64533968	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554214016	chr7:64533989-64533990	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577478263	chr7:64533993-64533994	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201599197	chr7:64534002-64534003	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545845755	chr7:64534016-64534017	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs562926101	chr7:64534017-64534018	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1799336	chr7:64534022-64534023	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576584152	chr7:64534040-64534041	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576003327	chr7:64534129-64534130	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs72606557	chr7:64534151-64534152	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs1799335	chr7:64534161-64534162	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs572670967	chr7:64534165-64534166	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs542376984	chr7:64534166-64534167	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561055417	chr7:64534191-64534192	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs529965128	chr7:64534197-64534198	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs147092229	chr7:64534207-64534208	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs59144687	chr7:64534208-64534209	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs546819293	chr7:64534223-64534224	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs560145034	chr7:64534273-64534274	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs116410932	chr7:64534370-64534371	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs551856478	chr7:64534401-64534402	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs568863014	chr7:64534426-64534427	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs537531548	chr7:64534456-64534457	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs547922061	chr7:64534470-64534471	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs147141567	chr7:64534636-64534637	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs568312016	chr7:64534672-64534673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370313768	chr7:64534675-64534676	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs140294378	chr7:64534811-64534812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373071528	chr7:64535224-64535225	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs147712144	chr7:64535240-64535241	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs534087104	chr7:64535273-64535274	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs71533998	chr7:64535312-64535313	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571029701	chr7:64535338-64535339	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64499600-64541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:64499800-64541000	Weak transcription	Lung	lung
3	chr7:64499800-64541000	Weak transcription	Ovary	ovary
4	chr7:64500000-64540200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:64500000-64541000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:64500200-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:64500200-64541000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:64500200-64541000	Weak transcription	NH-A	brain
9	chr7:64500400-64533800	Weak transcription	NHEK	skin
10	chr7:64500400-64541000	Weak transcription	Brain Germinal Matrix	brain
11	chr7:64500400-64541000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:64500600-64541000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:64500600-64541000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:64500600-64541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:64500600-64541000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:64500600-64541000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:64500600-64541000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:64500600-64541000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:64500600-64541000	Weak transcription	Hela-S3	cervix
20	chr7:64500600-64541200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:64500800-64541200	Weak transcription	Primary T cells from cord blood	blood
22	chr7:64501000-64541000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:64504800-64541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:64507000-64541000	Weak transcription	Pancreas	Pancrea
25	chr7:64515400-64541200	Weak transcription	Aorta	Aorta
26	chr7:64515800-64541200	Weak transcription	Gastric	stomach
27	chr7:64517200-64535000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:64517600-64534600	Weak transcription	GM12878-XiMat	blood
29	chr7:64518600-64534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:64518600-64541000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:64520200-64541200	Weak transcription	A549	lung
32	chr7:64520800-64541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:64521800-64541200	Weak transcription	Spleen	Spleen
34	chr7:64522600-64541000	Weak transcription	Brain Anterior Caudate	brain
35	chr7:64522800-64541000	Weak transcription	Right Ventricle	heart
36	chr7:64522800-64541000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:64522800-64541200	Weak transcription	Brain Angular Gyrus	brain
38	chr7:64523000-64541000	Weak transcription	Psoas Muscle	Psoas
39	chr7:64523200-64541000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:64523200-64541200	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:64523600-64541000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:64523800-64541000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:64524200-64541000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:64524200-64541000	Weak transcription	HSMM	muscle
45	chr7:64524800-64541000	Weak transcription	Liver	Liver
46	chr7:64525200-64538800	Weak transcription	K562	blood
47	chr7:64525800-64534000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:64525800-64541000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:64525800-64541000	Weak transcription	Primary B cells from cord blood	blood
50	chr7:64526200-64533800	Weak transcription	Muscle Satellite Cultured Cells	--

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