Variant report

Variant	esv2763619
Chromosome Location	chr7:11210275-11218986
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	BHLHE40	chr7:11215693-11215816	K562	blood:	n/a	n/a
2	BHLHE40	chr7:11210726-11210891	GM12878	blood:	n/a	n/a
3	CCNT2	chr7:11217186-11217420	K562	blood:	n/a	n/a
4	CEBPB	chr7:11210550-11210871	HepG2	liver:	n/a	chr7:11210690-11210701
5	CEBPB	chr7:11210526-11210841	IMR90	lung:	n/a	chr7:11210690-11210701
6	CEBPB	chr7:11210530-11210811	Hela-S3	cervix:	n/a	chr7:11210690-11210701
7	CEBPB	chr7:11210548-11210824	A549	lung:	n/a	chr7:11210690-11210701
8	CREB1	chr7:11210819-11211347	GM12878	blood:	n/a	n/a
9	CTCF	chr7:11211560-11211710	SK-N-SH_RA	brain:	n/a	n/a
10	E2F4	chr7:11216210-11216391	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr7:11210613-11210807	GM12878	blood:	n/a	n/a
12	EBF1	chr7:11215348-11215367	GM12878	blood:	n/a	n/a
13	EP300	chr7:11211371-11211890	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr7:11210596-11211070	GM12878	blood:	n/a	n/a
15	EP300	chr7:11211380-11211804	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr7:11216268-11217680	SK-N-SH	brain:	n/a	n/a
17	EP300	chr7:11210513-11211210	GM12878	blood:	n/a	n/a
18	EP300	chr7:11210729-11210924	GM12878	blood:	n/a	n/a
19	FOS	chr7:11210538-11210845	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr7:11210585-11210826	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr7:11210498-11210790	MCF10A-Er-Src	breast:	n/a	n/a
22	GATA2	chr7:11211409-11211821	HUVEC	blood vessel:	n/a	n/a
23	GATA2	chr7:11211375-11211925	SH-SY5Y	brain:	n/a	n/a
24	GATA2	chr7:11216784-11217155	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr7:11216478-11217174	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr7:11211324-11211980	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr7:11216585-11217121	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr7:11211464-11212038	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:11211464-11211822	T-47D	breast:	n/a	n/a
30	GATA3	chr7:11211262-11211991	SK-N-SH	brain:	n/a	n/a
31	MAFK	chr7:11216852-11217028	HepG2	liver:	n/a	chr7:11216881-11216898
32	POLR2A	chr7:11209696-11210287	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr7:11216811-11217209	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr7:11211442-11211814	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr7:11215648-11215970	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr7:11212740-11213357	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:11209602-11210467	SK-N-MC	brain:	n/a	n/a
38	RAD21	chr7:11211434-11211807	SK-N-SH_RA	brain:	n/a	n/a
39	RAD21	chr7:11211399-11211796	SK-N-SH_RA	brain:	n/a	n/a
40	REST	chr7:11211441-11211814	PFSK-1	brain:	n/a	n/a
41	SPI1	chr7:11211526-11211697	K562	blood:	n/a	n/a
42	STAT3	chr7:11210612-11210821	MCF10A-Er-Src	breast:	n/a	n/a
43	TCF7L2	chr7:11215360-11216000	HEK293	kidney:	n/a	n/a
44	YY1	chr7:11211386-11211752	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11205391..11208108-chr7:11211440..11214054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230333	TF binding region

Extended variants
information (count: 349 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147732404	chr7:11210282-11210283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs12668838	chr7:11210291-11210292	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555742094	chr7:11210310-11210311	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575590802	chr7:11210312-11210313	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141040062	chr7:11210323-11210324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561619792	chr7:11210386-11210387	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572239432	chr7:11210387-11210388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79424941	chr7:11210435-11210436	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs375870635	chr7:11210436-11210437	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575179126	chr7:11210438-11210439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs564651312	chr7:11210453-11210454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533270066	chr7:11210460-11210461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149801542	chr7:11210463-11210464	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563690569	chr7:11210545-11210546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544149818	chr7:11210549-11210550	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529279536	chr7:11210567-11210568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113948450	chr7:11210664-11210665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530780909	chr7:11210728-11210729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566358633	chr7:11210777-11210778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180958694	chr7:11210791-11210792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551676814	chr7:11210817-11210818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571764621	chr7:11210818-11210819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539167355	chr7:11210892-11210893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186184647	chr7:11210895-11210896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530003536	chr7:11210906-11210907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368556304	chr7:11210915-11210916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370789574	chr7:11210926-11210927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12154393	chr7:11210931-11210932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs555282367	chr7:11210961-11210962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560356335	chr7:11210989-11210990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572248626	chr7:11210993-11210994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148934278	chr7:11211000-11211001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564138615	chr7:11211020-11211021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552788801	chr7:11211031-11211032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140964849	chr7:11211039-11211040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372629275	chr7:11211042-11211043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145619223	chr7:11211151-11211152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543958878	chr7:11211188-11211189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563753864	chr7:11211196-11211197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529338058	chr7:11211199-11211200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549385846	chr7:11211205-11211206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560039682	chr7:11211260-11211261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538535026	chr7:11211263-11211264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201530313	chr7:11211290-11211291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10247599	chr7:11211307-11211308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73065493	chr7:11211308-11211309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189473861	chr7:11211324-11211325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535836459	chr7:11211353-11211354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181543437	chr7:11211361-11211362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552952852	chr7:11211370-11211371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
2	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
3	chr7:11170600-11217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:11175400-11213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:11180000-11210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:11189000-11210400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:11189200-11214000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:11190000-11213200	Weak transcription	Dnd41	blood
9	chr7:11193200-11211200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:11204200-11213200	Weak transcription	Primary B cells from cord blood	blood
11	chr7:11204400-11217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:11207000-11226000	Weak transcription	Gastric	stomach
13	chr7:11209000-11211400	Weak transcription	HUVEC	blood vessel
14	chr7:11209600-11210600	Enhancers	Liver	Liver
15	chr7:11209600-11210800	Enhancers	Fetal Brain Male	brain
16	chr7:11209800-11210400	Enhancers	Brain Angular Gyrus	brain
17	chr7:11210000-11210400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr7:11210000-11211000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:11210000-11211000	Enhancers	Adipose Nuclei	Adipose
20	chr7:11210000-11211000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr7:11210000-11211600	Enhancers	Fetal Brain Female	brain
22	chr7:11210200-11210600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:11210200-11211800	Enhancers	Fetal Lung	lung
24	chr7:11210600-11211400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:11211000-11212200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:11211200-11211600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:11211400-11212000	Enhancers	HUVEC	blood vessel
28	chr7:11211600-11215400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:11212600-11212800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:11215000-11215800	Enhancers	Fetal Intestine Small	intestine
31	chr7:11215400-11216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:11217200-11217800	Enhancers	Osteobl	bone
33	chr7:11217200-11218000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:11217400-11217600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:11217400-11218000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:11217600-11218000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:11218000-11222200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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