Variant report

Variant	esv1832033
Chromosome Location	chr7:66601324-66637001
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	chr7:66631997-66632120	K562	blood:	n/a	n/a
2	CBX3	chr7:66604858-66605231	K562	blood:	n/a	n/a
3	CEBPB	chr7:66610611-66610982	K562	blood:	n/a	chr7:66610796-66610807
4	CEBPB	chr7:66610663-66610935	HepG2	liver:	n/a	chr7:66610796-66610807
5	CEBPB	chr7:66612438-66612571	HepG2	liver:	n/a	chr7:66612497-66612508
6	CEBPB	chr7:66610673-66610873	H1-hESC	embryonic stem cell:	n/a	chr7:66610796-66610807
7	CEBPB	chr7:66612428-66612513	K562	blood:	n/a	chr7:66612497-66612508
8	CEBPB	chr7:66610657-66610871	K562	blood:	n/a	chr7:66610796-66610807
9	CEBPB	chr7:66610695-66610893	HepG2	liver:	n/a	chr7:66610796-66610807
10	CEBPB	chr7:66626717-66627119	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr7:66610709-66610885	Hela-S3	cervix:	n/a	chr7:66610796-66610807
12	CEBPD	chr7:66614605-66615013	K562	blood:	n/a	n/a
13	CTCF	chr7:66603063-66603116	GM20000	blood:	n/a	n/a
14	CTCF	chr7:66609371-66609425	Lung_OC	lung:	n/a	n/a
15	CTCF	chr7:66626246-66626265	GM13976	blood:	n/a	n/a
16	CTCF	chr7:66628186-66628219	Spleen_OC	spleen:	n/a	n/a
17	CTCF	chr7:66625890-66625910	GM13976	blood:	n/a	n/a
18	CTCF	chr7:66602920-66603070	SAEC	small airway:	n/a	n/a
19	CTCF	chr7:66603117-66603121	GM20000	blood:	n/a	n/a
20	CUX1	chr7:66636319-66636364	GM12878	blood:	n/a	n/a
21	E2F4	chr7:66626863-66627005	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr7:66602483-66602683	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr7:66636467-66636483	GM12878	blood:	n/a	n/a
24	EGR1	chr7:66628830-66629006	K562	blood:	n/a	n/a
25	EP300	chr7:66626740-66627076	Hela-S3	cervix:	n/a	n/a
26	EP300	chr7:66632078-66632081	K562	blood:	n/a	n/a
27	FOS	chr7:66626718-66627071	MCF10A-Er-Src	breast:	n/a	chr7:66626904-66626914 chr7:66626904-66626914 chr7:66626905-66626913 chr7:66626904-66626914 chr7:66626904-66626914
28	FOS	chr7:66602476-66602815	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr7:66634693-66634901	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr7:66634687-66634894	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr7:66634686-66634892	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr7:66626654-66627097	MCF10A-Er-Src	breast:	n/a	chr7:66626904-66626914 chr7:66626904-66626914 chr7:66626905-66626913 chr7:66626904-66626914 chr7:66626904-66626914
33	FOS	chr7:66626660-66627088	MCF10A-Er-Src	breast:	n/a	chr7:66626904-66626914 chr7:66626904-66626914 chr7:66626905-66626913 chr7:66626904-66626914 chr7:66626904-66626914
34	FOS	chr7:66602494-66602805	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr7:66634698-66634886	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr7:66626632-66627088	MCF10A-Er-Src	breast:	n/a	chr7:66626904-66626914 chr7:66626904-66626914 chr7:66626905-66626913 chr7:66626904-66626914 chr7:66626904-66626914
37	FOS	chr7:66602476-66602747	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr7:66602454-66602751	MCF10A-Er-Src	breast:	n/a	n/a
39	FOXA1	chr7:66616956-66617239	HepG2	liver:	n/a	n/a
40	FOXA2	chr7:66616847-66617397	A549	lung:	n/a	n/a
41	FOXP2	chr7:66608409-66608638	PFSK-1	brain:	n/a	n/a
42	GATA2	chr7:66631915-66632252	K562	blood:	n/a	n/a
43	GATA2	chr7:66628291-66628594	K562	blood:	n/a	n/a
44	IRF1	chr7:66619556-66619640	K562	blood:	n/a	n/a
45	IRF1	chr7:66633520-66633550	K562	blood:	n/a	n/a
46	JUN	chr7:66602666-66602706	K562	blood:	n/a	n/a
47	JUN	chr7:66622707-66622735	K562	blood:	n/a	n/a
48	JUND	chr7:66612250-66612476	HepG2	liver:	n/a	n/a
49	JUND	chr7:66628346-66628562	K562	blood:	n/a	n/a
50	JUND	chr7:66632155-66632215	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000265024	TF binding region

Extended variants
information (count: 1538 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1538 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6460328	chr7:66601324-66601325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548086118	chr7:66601356-66601357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113615608	chr7:66601357-66601358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115221758	chr7:66601392-66601393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561822732	chr7:66601468-66601469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578224273	chr7:66601475-66601476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138100110	chr7:66601481-66601482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369995740	chr7:66601482-66601483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543998687	chr7:66601508-66601509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563996643	chr7:66601532-66601533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116708691	chr7:66601536-66601537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6950847	chr7:66601552-66601553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs559345543	chr7:66601607-66601608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550534134	chr7:66601615-66601616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10571057	chr7:66601616-66601617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555338879	chr7:66601625-66601626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200896125	chr7:66601638-66601639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6951029	chr7:66601660-66601661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570146922	chr7:66601665-66601666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113258857	chr7:66601668-66601669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12536874	chr7:66601672-66601673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111960820	chr7:66601674-66601675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs67311877	chr7:66601675-66601676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112525208	chr7:66601676-66601677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536588212	chr7:66601682-66601683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139096902	chr7:66601735-66601736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76440064	chr7:66601819-66601820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs66744554	chr7:66601836-66601837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs143961761	chr7:66601849-66601850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558299137	chr7:66601883-66601884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12531934	chr7:66601886-66601887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs537523805	chr7:66601905-66601906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557624195	chr7:66601924-66601925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112147522	chr7:66601933-66601934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543307751	chr7:66602005-66602006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539011685	chr7:66602036-66602037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71980659	chr7:66602037-66602038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56032222	chr7:66602041-66602042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55743603	chr7:66602051-66602052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572810280	chr7:66602053-66602054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386714118	chr7:66602089-66602090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558130852	chr7:66602090-66602091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55829112	chr7:66602091-66602092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs374738100	chr7:66602141-66602142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550250080	chr7:66602157-66602158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181318855	chr7:66602242-66602243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368162007	chr7:66602341-66602342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529805527	chr7:66602360-66602361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546883480	chr7:66602412-66602413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11769439	chr7:66602413-66602414	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:81)

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
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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:66547800-66602800	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:66566400-66605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:66576600-66616600	Weak transcription	Fetal Stomach	stomach
7	chr7:66584200-66606600	Weak transcription	HSMMtube	muscle
8	chr7:66584400-66624400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:66585000-66622400	Weak transcription	HSMM	muscle
10	chr7:66585000-66623600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:66585200-66627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:66589000-66605000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:66591400-66620000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:66591600-66626400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:66594000-66622000	Weak transcription	Pancreas	Pancrea
16	chr7:66594200-66623800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:66594600-66601600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:66594600-66604600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:66594600-66604800	Weak transcription	Small Intestine	intestine
20	chr7:66594600-66609200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:66594600-66614800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:66594600-66615800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:66594600-66617800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:66594600-66620200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:66594600-66621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:66594800-66623000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:66594800-66626800	Weak transcription	Dnd41	blood
28	chr7:66595000-66602800	Weak transcription	Primary T cells from cord blood	blood
29	chr7:66595000-66604200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:66595000-66613600	Weak transcription	K562	blood
31	chr7:66595000-66618800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:66595000-66627400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:66595200-66616400	Weak transcription	GM12878-XiMat	blood
34	chr7:66595400-66604400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:66595400-66620400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:66595600-66604400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:66595600-66616600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:66595800-66607800	Weak transcription	Ovary	ovary
39	chr7:66596000-66602600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:66596000-66611800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:66596000-66618800	Weak transcription	Fetal Intestine Large	intestine
42	chr7:66596000-66619200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:66596000-66620200	Weak transcription	Primary B cells from cord blood	blood
44	chr7:66596000-66620400	Weak transcription	Adipose Nuclei	Adipose
45	chr7:66597400-66605000	Weak transcription	Right Ventricle	heart
46	chr7:66598600-66616400	Weak transcription	Fetal Intestine Small	intestine
47	chr7:66600000-66601400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:66600000-66601400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:66600000-66601400	Enhancers	NHDF-Ad	bronchial
50	chr7:66600000-66603400	Enhancers	NHEK	skin

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