Variant report

Variant	nsv887612
Chromosome Location	chr7:11756776-11806289
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	chr7:11765873-11766181	GM12878	blood:	n/a	chr7:11766025-11766036
2	BATF	chr7:11793826-11794047	GM12878	blood:	n/a	n/a
3	BATF	chr7:11765900-11766127	GM12878	blood:	n/a	chr7:11766025-11766036
4	BCL11A	chr7:11765889-11766254	GM12878	blood:	n/a	chr7:11766094-11766103
5	BCL11A	chr7:11765898-11766162	GM12878	blood:	n/a	chr7:11766094-11766103
6	BCL3	chr7:11791136-11792059	A549	lung:	n/a	n/a
7	BCL3	chr7:11790859-11792070	A549	lung:	n/a	n/a
8	BHLHE40	chr7:11765883-11766208	GM12878	blood:	n/a	n/a
9	CEBPB	chr7:11798100-11798840	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	chr7:11799176-11799419	A549	lung:	n/a	n/a
13	CEBPB	chr7:11773746-11773964	A549	lung:	n/a	chr7:11773915-11773924 chr7:11773915-11773926
14	CEBPB	chr7:11800021-11800345	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr7:11767605-11767883	A549	lung:	n/a	n/a
16	CEBPB	chr7:11798081-11798599	A549	lung:	n/a	n/a
17	CEBPB	chr7:11799999-11800357	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr7:11765943-11766284	A549	lung:	n/a	chr7:11766075-11766088 chr7:11766077-11766088 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086
19	CEBPB	chr7:11789837-11790037	IMR90	lung:	n/a	chr7:11789971-11789982 chr7:11789970-11789981
20	CEBPB	chr7:11800004-11800338	A549	lung:	n/a	n/a
21	CEBPB	chr7:11765918-11766292	A549	lung:	n/a	chr7:11766075-11766088 chr7:11766077-11766088 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086
22	CEBPB	chr7:11782050-11782644	ECC-1	luminal epithelium:	n/a	chr7:11782133-11782146
23	CEBPB	chr7:11799871-11800447	A549	lung:	n/a	n/a
24	CEBPB	chr7:11765777-11766336	A549	lung:	n/a	chr7:11766075-11766088 chr7:11766077-11766088 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086
25	CEBPB	chr7:11789858-11790085	HepG2	liver:	n/a	chr7:11789971-11789982 chr7:11789970-11789981
26	CEBPB	chr7:11765945-11766173	Hela-S3	cervix:	n/a	chr7:11766075-11766088 chr7:11766077-11766088 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086 chr7:11766077-11766086
27	CHD2	chr7:11765833-11766141	GM12878	blood:	n/a	n/a
28	CREB1	chr7:11791682-11791955	A549	lung:	n/a	n/a
29	CREB1	chr7:11800040-11800273	A549	lung:	n/a	n/a
30	CTCF	chr7:11788680-11788830	HMF	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
31	CTCF	chr7:11788640-11788790	WERI-Rb-1	eye:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
32	CTCF	chr7:11788720-11788870	RPTEC	kidney:	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	chr7:11788640-11788790	HBMEC	blood vessel:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
35	CTCF	chr7:11788620-11788770	HVMF	connective:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
36	CTCF	chr7:11788612-11788769	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
37	CTCF	chr7:11788580-11788730	SAEC	small airway:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
38	CTCF	chr7:11788720-11788870	GM12865	blood:	n/a	n/a
39	CTCF	chr7:11788651-11788781	Hela-S3	cervix:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
40	CTCF	chr7:11788651-11788740	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
41	CTCF	chr7:11788660-11788810	NHEK	skin:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
42	CTCF	chr7:11788660-11788810	HVMF	connective:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
43	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
44	CTCF	chr7:11788660-11788950	GM12865	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
45	CTCF	chr7:11788600-11788750	A549	lung:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
46	CTCF	chr7:11794680-11794830	HepG2	liver:	n/a	n/a
47	CTCF	chr7:11788560-11788710	BE2_C	brain:	n/a	n/a
48	CTCF	chr7:11788580-11788730	GM12872	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
49	CTCF	chr7:11788620-11788770	HCPEpiC	choroid plexus:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
50	CTCF	chr7:11788580-11788730	HCPEpiC	choroid plexus:	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	chr7:11751558..11753494-chr7:11758011..11760902,2	K562	blood:
2	chr7:11776469..11779139-chr7:11790572..11792630,2	MCF-7	breast:
3	chr7:11778825..11780643-chr7:11781305..11783920,2	K562	blood:
4	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: 2239 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2239 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1526543	chr7:11756776-11756777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114483651	chr7:11756805-11756806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563719289	chr7:11756841-11756842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570335082	chr7:11756843-11756844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535736597	chr7:11756870-11756871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34999385	chr7:11756891-11756892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529294428	chr7:11756899-11756900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555751364	chr7:11756917-11756918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80341973	chr7:11756941-11756942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541420236	chr7:11756948-11756949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542763177	chr7:11756970-11756971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558321801	chr7:11756991-11756992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75088527	chr7:11757037-11757038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559811798	chr7:11757068-11757069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562502828	chr7:11757083-11757084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75021113	chr7:11757243-11757244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374806461	chr7:11757296-11757297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116568955	chr7:11757300-11757301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183097258	chr7:11757302-11757303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376795662	chr7:11757313-11757314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527323865	chr7:11757382-11757383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546982388	chr7:11757384-11757385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144960471	chr7:11757401-11757402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4446622	chr7:11757415-11757416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4400269	chr7:11757441-11757442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571492329	chr7:11757463-11757464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570119261	chr7:11757504-11757505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7812225	chr7:11757518-11757519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187923266	chr7:11757575-11757576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142030192	chr7:11757594-11757595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531140076	chr7:11757670-11757671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535064070	chr7:11757679-11757680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550861654	chr7:11757681-11757682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558135792	chr7:11757804-11757805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578150976	chr7:11757806-11757807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543517057	chr7:11757821-11757822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556345593	chr7:11757832-11757833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576185825	chr7:11757862-11757863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192083779	chr7:11757875-11757876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184437147	chr7:11757891-11757892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572006954	chr7:11757910-11757911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540630627	chr7:11757911-11757912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34539724	chr7:11757917-11757918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28689108	chr7:11757918-11757919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569353702	chr7:11757925-11757926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532881673	chr7:11757926-11757927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571912457	chr7:11757928-11757929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549635239	chr7:11757988-11757989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563378098	chr7:11758062-11758063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529500925	chr7:11758108-11758109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11753000-11757400	Enhancers	HUVEC	blood vessel
2	chr7:11753400-11759600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:11755800-11757000	Enhancers	Pancreas	Pancrea
4	chr7:11756000-11757200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:11756200-11757200	Enhancers	A549	lung
6	chr7:11757200-11764800	Weak transcription	A549	lung
7	chr7:11759600-11760200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:11761000-11765200	Weak transcription	Fetal Lung	lung
9	chr7:11761800-11762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:11762200-11766000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:11764800-11765400	Enhancers	A549	lung
12	chr7:11765200-11765400	Enhancers	Fetal Lung	lung
13	chr7:11765200-11766000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:11765400-11765800	Weak transcription	Fetal Lung	lung
15	chr7:11765400-11765800	Weak transcription	A549	lung
16	chr7:11765600-11766000	Enhancers	NHDF-Ad	bronchial
17	chr7:11765800-11766000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:11765800-11766000	Enhancers	A549	lung
19	chr7:11765800-11768000	Enhancers	Fetal Lung	lung
20	chr7:11766000-11766200	Enhancers	Osteobl	bone
21	chr7:11766000-11766400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:11766000-11766400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:11766000-11766400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr7:11766000-11766600	Enhancers	Adipose Nuclei	Adipose
25	chr7:11766000-11766600	Flanking Active TSS	A549	lung
26	chr7:11766000-11766800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:11766000-11766800	Enhancers	Fetal Heart	heart
28	chr7:11766000-11766800	Enhancers	Fetal Muscle Leg	muscle
29	chr7:11766000-11766800	Enhancers	Fetal Stomach	stomach
30	chr7:11766000-11767800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:11766000-11767800	Enhancers	Colon Smooth Muscle	Colon
32	chr7:11766000-11767800	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:11766200-11766600	Flanking Active TSS	Osteobl	bone
34	chr7:11766200-11767000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:11766200-11767000	Enhancers	Stomach Smooth Muscle	stomach
36	chr7:11766400-11767600	Enhancers	NHDF-Ad	bronchial
37	chr7:11766400-11768000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:11766400-11768000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:11766600-11766800	Active TSS	A549	lung
40	chr7:11766800-11767400	Weak transcription	A549	lung
41	chr7:11767400-11768200	Enhancers	A549	lung
42	chr7:11768000-11782000	Weak transcription	Fetal Lung	lung
43	chr7:11768200-11769000	Weak transcription	A549	lung
44	chr7:11769000-11769400	Active TSS	A549	lung
45	chr7:11769400-11770200	Weak transcription	A549	lung
46	chr7:11770200-11770800	Active TSS	A549	lung
47	chr7:11770800-11771200	Weak transcription	A549	lung
48	chr7:11771200-11771400	Enhancers	A549	lung
49	chr7:11771400-11772000	Weak transcription	A549	lung
50	chr7:11772000-11775200	Enhancers	A549	lung

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