Variant report

Variant	nsv887613
Chromosome Location	chr7:11766964-11806289
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	BATF	chr7:11793826-11794047	GM12878	blood:	n/a	n/a
2	BCL3	chr7:11790859-11792070	A549	lung:	n/a	n/a
3	BCL3	chr7:11791136-11792059	A549	lung:	n/a	n/a
4	CEBPB	chr7:11800004-11800338	A549	lung:	n/a	n/a
5	CEBPB	chr7:11799176-11799419	A549	lung:	n/a	n/a
6	CEBPB	chr7:11789858-11790085	HepG2	liver:	n/a	chr7:11789971-11789982 chr7:11789970-11789981
7	CEBPB	chr7:11798100-11798840	A549	lung:	n/a	n/a
8	CEBPB	chr7:11789837-11790037	IMR90	lung:	n/a	chr7:11789971-11789982 chr7:11789970-11789981
9	CEBPB	chr7:11799871-11800447	A549	lung:	n/a	n/a
10	CEBPB	chr7:11799964-11800365	A549	lung:	n/a	n/a
11	CEBPB	chr7:11799997-11800389	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr7:11767605-11767883	A549	lung:	n/a	n/a
13	CEBPB	chr7:11798081-11798599	A549	lung:	n/a	n/a
14	CEBPB	chr7:11800021-11800345	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr7:11799999-11800357	ECC-1	luminal epithelium:	n/a	n/a
16	CEBPB	chr7:11773746-11773964	A549	lung:	n/a	chr7:11773915-11773924 chr7:11773915-11773926
17	CEBPB	chr7:11782050-11782644	ECC-1	luminal epithelium:	n/a	chr7:11782133-11782146
18	CREB1	chr7:11791682-11791955	A549	lung:	n/a	n/a
19	CREB1	chr7:11800040-11800273	A549	lung:	n/a	n/a
20	CTCF	chr7:11788680-11788765	H1-hESC	embryonic stem cell:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
21	CTCF	chr7:11794700-11794850	BE2_C	brain:	n/a	n/a
22	CTCF	chr7:11788560-11788710	BE2_C	brain:	n/a	n/a
23	CTCF	chr7:11788720-11788870	GM12865	blood:	n/a	n/a
24	CTCF	chr7:11788580-11788730	GM12875	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
25	CTCF	chr7:11788651-11788786	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
26	CTCF	chr7:11788620-11788770	HCPEpiC	choroid plexus:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
27	CTCF	chr7:11788612-11788769	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
28	CTCF	chr7:11788580-11788730	SAEC	small airway:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
29	CTCF	chr7:11788580-11788730	GM12872	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
30	CTCF	chr7:11788632-11788785	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
31	CTCF	chr7:11788660-11788810	GM12871	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
32	CTCF	chr7:11794706-11794776	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr7:11788660-11788810	GM12865	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
34	CTCF	chr7:11788684-11788751	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
35	CTCF	chr7:11788640-11788790	HBMEC	blood vessel:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
36	CTCF	chr7:11788660-11788810	HEK293	kidney:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
37	CTCF	chr7:11788580-11788730	Hela-S3	cervix:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
38	CTCF	chr7:11788720-11788870	GM06990	blood:	n/a	n/a
39	CTCF	chr7:11767500-11767650	HVMF	connective:	n/a	n/a
40	CTCF	chr7:11788639-11788788	GM12878	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
41	CTCF	chr7:11788600-11788750	BE2_C	brain:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
42	CTCF	chr7:11788660-11788810	NHEK	skin:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
43	CTCF	chr7:11788720-11788870	GM12872	blood:	n/a	n/a
44	CTCF	chr7:11788651-11788740	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
45	CTCF	chr7:11788553-11788825	GM12878	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
46	CTCF	chr7:11788680-11788830	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
47	CTCF	chr7:11788638-11788809	Medullo	brain:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
48	CTCF	chr7:11788580-11788730	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
49	CTCF	chr7:11788661-11788765	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
50	CTCF	chr7:11788640-11788790	SK-N-SH_RA	brain:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718

No.	Distal block	Cell Line	Cell type
1	chr7:11776469..11779139-chr7:11790572..11792630,2	MCF-7	breast:
2	chr7:11778825..11780643-chr7:11781305..11783920,2	K562	blood:
3	chr7:11778825..11780643-chr7:11781305..11783920,2	K562	blood:

Variant related genes	Relation type
THSD7A	TF binding region
ENSG00000005108	chromatin interactions

Extended variants
information (count: 1782 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1782 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10499410	chr7:11766964-11766965	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574812122	chr7:11766966-11766967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540177415	chr7:11766989-11766990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560356926	chr7:11767034-11767035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143810717	chr7:11767082-11767083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112219756	chr7:11767130-11767131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569846222	chr7:11767135-11767136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374224918	chr7:11767136-11767137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140524171	chr7:11767183-11767184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566147779	chr7:11767193-11767194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112377891	chr7:11767220-11767221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568338942	chr7:11767229-11767230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185432093	chr7:11767239-11767240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534369934	chr7:11767263-11767264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547782998	chr7:11767265-11767266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559953690	chr7:11767286-11767287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189002197	chr7:11767349-11767350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535719411	chr7:11767355-11767356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181036627	chr7:11767368-11767369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34455277	chr7:11767371-11767372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116361748	chr7:11767377-11767378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138167624	chr7:11767425-11767426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185500788	chr7:11767472-11767473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555867465	chr7:11767499-11767500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574697761	chr7:11767513-11767514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540379194	chr7:11767540-11767541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560235464	chr7:11767571-11767572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13307585	chr7:11767633-11767634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs376790708	chr7:11767666-11767667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545516386	chr7:11767678-11767679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552055812	chr7:11767693-11767694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562122859	chr7:11767702-11767703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568782260	chr7:11767716-11767717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189678501	chr7:11767799-11767800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547897768	chr7:11767800-11767801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181071547	chr7:11767809-11767810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527882705	chr7:11767861-11767862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7782026	chr7:11767881-11767882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142330062	chr7:11767907-11767908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540108318	chr7:11767966-11767967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568421264	chr7:11767983-11767984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146308271	chr7:11768015-11768016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570086196	chr7:11768016-11768017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535812904	chr7:11768022-11768023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555902241	chr7:11768072-11768073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2355070	chr7:11768097-11768098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564326218	chr7:11768134-11768135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533790900	chr7:11768144-11768145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140355966	chr7:11768145-11768146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2030865	chr7:11768165-11768166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:91)

Disease	PMID	Source
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
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11765800-11768000	Enhancers	Fetal Lung	lung
2	chr7:11766000-11767800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:11766000-11767800	Enhancers	Colon Smooth Muscle	Colon
4	chr7:11766000-11767800	Enhancers	Rectal Smooth Muscle	rectum
5	chr7:11766200-11767000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:11766200-11767000	Enhancers	Stomach Smooth Muscle	stomach
7	chr7:11766400-11767600	Enhancers	NHDF-Ad	bronchial
8	chr7:11766400-11768000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:11766400-11768000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:11766800-11767400	Weak transcription	A549	lung
11	chr7:11767400-11768200	Enhancers	A549	lung
12	chr7:11768000-11782000	Weak transcription	Fetal Lung	lung
13	chr7:11768200-11769000	Weak transcription	A549	lung
14	chr7:11769000-11769400	Active TSS	A549	lung
15	chr7:11769400-11770200	Weak transcription	A549	lung
16	chr7:11770200-11770800	Active TSS	A549	lung
17	chr7:11770800-11771200	Weak transcription	A549	lung
18	chr7:11771200-11771400	Enhancers	A549	lung
19	chr7:11771400-11772000	Weak transcription	A549	lung
20	chr7:11772000-11775200	Enhancers	A549	lung
21	chr7:11772200-11773400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:11775200-11782200	Weak transcription	A549	lung
23	chr7:11776800-11777400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:11777000-11777200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr7:11777000-11777200	Enhancers	NHDF-Ad	bronchial
26	chr7:11777200-11782200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:11777200-11782200	Weak transcription	NHDF-Ad	bronchial
28	chr7:11777400-11777800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:11777800-11778200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:11780400-11780800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr7:11780800-11782000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:11781800-11783000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:11782000-11782400	Enhancers	Fetal Lung	lung
34	chr7:11782000-11782400	Enhancers	HUVEC	blood vessel
35	chr7:11782200-11782400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:11782200-11782600	Enhancers	Primary hematopoietic stem cells	blood
37	chr7:11782200-11782600	Enhancers	A549	lung
38	chr7:11782200-11782600	Enhancers	NHDF-Ad	bronchial
39	chr7:11782200-11783000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr7:11782200-11783000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:11782600-11785800	Weak transcription	A549	lung
42	chr7:11783000-11793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:11785800-11786400	ZNF genes & repeats	A549	lung
44	chr7:11786400-11789000	Weak transcription	A549	lung
45	chr7:11788800-11791600	Enhancers	Placenta	Placenta
46	chr7:11789000-11789400	Enhancers	Stomach Mucosa	stomach
47	chr7:11789000-11790200	Active TSS	A549	lung
48	chr7:11790200-11790400	Flanking Active TSS	A549	lung
49	chr7:11790400-11790800	Active TSS	A549	lung
50	chr7:11790400-11791800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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