Variant report

Variant	nsv970796
Chromosome Location	chr7:11787992-11794418
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	chr7:11791136-11792059	A549	lung:	n/a	n/a
3	BCL3	chr7:11790859-11792070	A549	lung:	n/a	n/a
4	CEBPB	chr7:11789858-11790085	HepG2	liver:	n/a	chr7:11789971-11789982 chr7:11789970-11789981
5	CEBPB	chr7:11789837-11790037	IMR90	lung:	n/a	chr7:11789971-11789982 chr7:11789970-11789981
6	CREB1	chr7:11791682-11791955	A549	lung:	n/a	n/a
7	CTCF	chr7:11788620-11788770	HCPEpiC	choroid plexus:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
8	CTCF	chr7:11788600-11788750	A549	lung:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
9	CTCF	chr7:11788560-11788710	BE2_C	brain:	n/a	n/a
10	CTCF	chr7:11788620-11788770	HVMF	connective:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
11	CTCF	chr7:11788640-11788790	HBMEC	blood vessel:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
12	CTCF	chr7:11788638-11788809	Medullo	brain:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
13	CTCF	chr7:11788684-11788751	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
14	CTCF	chr7:11788660-11788810	HVMF	connective:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
15	CTCF	chr7:11788679-11788740	K562	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
16	CTCF	chr7:11788660-11788810	GM12871	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
17	CTCF	chr7:11788720-11788870	GM06990	blood:	n/a	n/a
18	CTCF	chr7:11788680-11788830	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
19	CTCF	chr7:11788680-11788830	NB4	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
20	CTCF	chr7:11788720-11788870	GM12872	blood:	n/a	n/a
21	CTCF	chr7:11788680-11788830	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
22	CTCF	chr7:11788580-11788730	HCPEpiC	choroid plexus:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
23	CTCF	chr7:11788580-11788730	GM12875	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
24	CTCF	chr7:11788619-11788802	Gliobla	brain:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
25	CTCF	chr7:11788660-11788950	GM12865	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
26	CTCF	chr7:11788651-11788740	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
27	CTCF	chr7:11788580-11788730	GM12872	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
28	CTCF	chr7:11788613-11788795	A549	lung:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
29	CTCF	chr7:11788720-11788870	RPTEC	kidney:	n/a	n/a
30	CTCF	chr7:11788651-11788786	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
31	CTCF	chr7:11788580-11788730	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
32	CTCF	chr7:11788661-11788765	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
33	CTCF	chr7:11788580-11788730	Hela-S3	cervix:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
34	CTCF	chr7:11788720-11788870	GM12865	blood:	n/a	n/a
35	CTCF	chr7:11788580-11788730	HUVEC	blood vessel:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
36	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
37	CTCF	chr7:11788649-11788805	K562	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
38	CTCF	chr7:11788600-11788750	BE2_C	brain:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
39	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
40	CTCF	chr7:11788740-11788890	HCT-116	colon:	n/a	n/a
41	CTCF	chr7:11788639-11788788	GM12878	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
42	CTCF	chr7:11788660-11788810	GM12865	blood:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
43	CTCF	chr7:11788651-11788781	Hela-S3	cervix:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
44	CTCF	chr7:11788660-11788810	HEK293	kidney:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
45	CTCF	chr7:11788580-11788730	HPAF	blood vessel:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
46	CTCF	chr7:11788612-11788769	HepG2	liver:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
47	CTCF	chr7:11788632-11788785	MCF-7	breast:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
48	CTCF	chr7:11788640-11788790	HCFaa	heart:	n/a	chr7:11788704-11788720 chr7:11788703-11788721 chr7:11788706-11788715 chr7:11788705-11788726 chr7:11788708-11788718
49	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
50	CTCF	chr7:11788560-11788710	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
THSD7A	TF binding region

Extended variants
information (count: 277 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188368698	chr7:11788006-11788007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542979292	chr7:11788010-11788011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533512325	chr7:11788024-11788025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543477324	chr7:11788103-11788104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562353512	chr7:11788150-11788151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75957631	chr7:11788160-11788161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368765904	chr7:11788194-11788195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562001083	chr7:11788195-11788196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527317052	chr7:11788200-11788201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192252075	chr7:11788239-11788240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570316162	chr7:11788286-11788287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115299783	chr7:11788340-11788341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77677026	chr7:11788341-11788342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7781073	chr7:11788385-11788386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536049447	chr7:11788403-11788404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183664243	chr7:11788405-11788406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188369774	chr7:11788415-11788416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556362111	chr7:11788433-11788434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146932171	chr7:11788472-11788473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576152901	chr7:11788477-11788478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147561817	chr7:11788531-11788532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543515221	chr7:11788566-11788567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141903639	chr7:11788569-11788570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369364208	chr7:11788602-11788603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575866581	chr7:11788606-11788607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535741627	chr7:11788608-11788609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75470130	chr7:11788614-11788615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371554496	chr7:11788615-11788616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111825563	chr7:11788641-11788642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540925549	chr7:11788646-11788647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564109786	chr7:11788685-11788686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148148420	chr7:11788717-11788718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555657419	chr7:11788721-11788722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373817205	chr7:11788757-11788758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397697580	chr7:11788758-11788759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369842834	chr7:11788759-11788760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549945097	chr7:11788762-11788763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569753844	chr7:11788870-11788871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529541769	chr7:11788873-11788874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549576682	chr7:11788895-11788896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541406020	chr7:11788910-11788911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564461228	chr7:11788961-11788962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535337203	chr7:11788969-11788970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181763775	chr7:11788971-11788972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs578081076	chr7:11788977-11788978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571347346	chr7:11788990-11788991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537032094	chr7:11789001-11789002	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs184941577	chr7:11789093-11789094	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113337932	chr7:11789134-11789135	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs557060470	chr7:11789144-11789145	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Rett syndrome	21593744	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11783000-11793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:11786400-11789000	Weak transcription	A549	lung
3	chr7:11788800-11791600	Enhancers	Placenta	Placenta
4	chr7:11789000-11789400	Enhancers	Stomach Mucosa	stomach
5	chr7:11789000-11790200	Active TSS	A549	lung
6	chr7:11790200-11790400	Flanking Active TSS	A549	lung
7	chr7:11790400-11790800	Active TSS	A549	lung
8	chr7:11790400-11791800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:11790600-11792600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:11790800-11791200	Flanking Active TSS	A549	lung
11	chr7:11790800-11791600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:11791200-11791400	Active TSS	A549	lung
13	chr7:11791400-11791600	Flanking Active TSS	A549	lung
14	chr7:11791600-11791800	Active TSS	A549	lung
15	chr7:11791600-11792000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:11791600-11792200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:11791600-11795000	Weak transcription	Placenta	Placenta
18	chr7:11791800-11792000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:11791800-11792000	Flanking Active TSS	A549	lung
20	chr7:11792000-11792200	Enhancers	A549	lung
21	chr7:11792000-11793000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:11792200-11792400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:11792200-11792600	Weak transcription	A549	lung
24	chr7:11792600-11795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:11792600-11795000	Enhancers	A549	lung
26	chr7:11792800-11793400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:11792800-11794200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:11793000-11793400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:11793000-11793400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:11793000-11793400	Enhancers	Fetal Muscle Leg	muscle
31	chr7:11794200-11794800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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