Variant report

Variant	nsv971142
Chromosome Location	chr7:108968898-109001611
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	CEBPB	chr7:108983779-108984138	Hela-S3	cervix:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
2	CEBPB	chr7:108983855-108984082	MCF-7	breast:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
3	CEBPB	chr7:108983843-108984061	A549	lung:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
4	CEBPB	chr7:108983779-108984104	HepG2	liver:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
5	CTCF	chr7:108985460-108985610	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
6	CTCF	chr7:108985380-108985530	BE2_C	brain:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
7	CTCF	chr7:108985394-108985570	LNCaP	prostate:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
8	CTCF	chr7:108985417-108985543	GM19239	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
9	CTCF	chr7:108985470-108985516	LNCaP	prostate:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
10	CTCF	chr7:108985420-108985570	WERI-Rb-1	eye:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
11	CTCF	chr7:108985395-108985599	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
12	CTCF	chr7:108985402-108985574	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
13	CTCF	chr7:108985436-108985512	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
14	CTCF	chr7:108985360-108985510	BE2_C	brain:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
15	CTCF	chr7:108985380-108985530	HMEC	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
16	CTCF	chr7:108998100-108998250	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr7:108985302-108985604	H1-hESC	embryonic stem cell:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
18	CTCF	chr7:108985480-108985630	Caco-2	colon:	n/a	chr7:108985483-108985501
19	CTCF	chr7:108985454-108985549	A549	lung:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
20	CTCF	chr7:108985460-108985505	H1-hESC	embryonic stem cell:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
21	CTCF	chr7:108985518-108985526	LNCaP	prostate:	n/a	n/a
22	CTCF	chr7:108985464-108985544	HepG2	liver:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
23	CTCF	chr7:108985419-108985542	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
24	CTCF	chr7:108985453-108985529	GM19238	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
25	CTCF	chr7:108985450-108985548	Hela-S3	cervix:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
26	CTCF	chr7:108985420-108985570	NHEK	skin:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
27	CTCF	chr7:108985420-108985570	HepG2	liver:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
28	CTCF	chr7:108985352-108985607	GM12878	blood:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
29	CTCF	chr7:108985328-108985690	MCF-7	breast:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
30	E2F4	chr7:108969733-108969804	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr7:108998702-108999070	GM12878	blood:	n/a	chr7:108998866-108998877
32	EP300	chr7:108969019-108969429	T-47D	breast:	n/a	chr7:108969224-108969234
33	EP300	chr7:108975551-108976235	T-47D	breast:	n/a	chr7:108975740-108975750
34	FOS	chr7:108982977-108983283	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr7:108983878-108984035	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr7:108983058-108983231	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr7:108983865-108984020	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr7:108983839-108984027	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr7:108983032-108983231	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXA1	chr7:108968985-108969467	T-47D	breast:	n/a	chr7:108969217-108969229
41	FOXA1	chr7:108975967-108976302	T-47D	breast:	n/a	n/a
42	FOXA1	chr7:108975568-108976280	T-47D	breast:	n/a	chr7:108975737-108975749 chr7:108975812-108975824
43	FOXA1	chr7:108969154-108969383	T-47D	breast:	n/a	chr7:108969217-108969229
44	GATA3	chr7:108989976-108990071	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr7:108975395-108976138	MCF-7	breast:	n/a	chr7:108975417-108975427
46	GATA3	chr7:108977098-108977259	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr7:108997094-108997201	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr7:108975883-108976247	T-47D	breast:	n/a	n/a
49	GATA3	chr7:108995407-108995525	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr7:108981973-108982086	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:
2	chr6:101816226..101817017-chr7:108978282..108979156,2	MCF-7	breast:
3	chr6:125963245..125963978-chr7:108992120..108992898,2	MCF-7	breast:
4	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
5	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:

Variant related genes	Relation type
ENSG00000230941	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573952581	chr7:108968911-108968912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs370439591	chr7:108968919-108968920	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs542458098	chr7:108968927-108968928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376616065	chr7:108968931-108968932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs562661650	chr7:108968935-108968936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs185424857	chr7:108969009-108969010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs848889	chr7:108969038-108969039	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537571726	chr7:108969042-108969043	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs10257229	chr7:108969055-108969056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs533189799	chr7:108969104-108969105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546555794	chr7:108969116-108969117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs560435316	chr7:108969123-108969124	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190283919	chr7:108969125-108969126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs77944695	chr7:108969151-108969152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs533152829	chr7:108969153-108969154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs569477668	chr7:108969201-108969202	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs181401318	chr7:108969202-108969203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs149250812	chr7:108969257-108969258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs187037425	chr7:108969277-108969278	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs533788622	chr7:108969311-108969312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553754060	chr7:108969321-108969322	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2214062	chr7:108969379-108969380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2188437	chr7:108969386-108969387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2188436	chr7:108969495-108969496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs567575724	chr7:108969535-108969536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs191877230	chr7:108969536-108969537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs556180421	chr7:108969544-108969545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs188912853	chr7:108969733-108969734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs79939889	chr7:108969735-108969736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs551788830	chr7:108969744-108969745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs368271522	chr7:108969764-108969765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs116257816	chr7:108969781-108969782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546616396	chr7:108969801-108969802	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs374699623	chr7:108970974-108970975	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565977370	chr7:108970983-108970984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs562223880	chr7:108970986-108970987	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs574280912	chr7:108971000-108971001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565625479	chr7:108971099-108971100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534527945	chr7:108971146-108971147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs548030859	chr7:108971190-108971191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs567756421	chr7:108971213-108971214	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs536385318	chr7:108971229-108971230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556616236	chr7:108971259-108971260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs192958435	chr7:108971261-108971262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142186360	chr7:108971271-108971272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370926564	chr7:108971282-108971283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs559308313	chr7:108971305-108971306	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs572750067	chr7:108971331-108971332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs145919354	chr7:108971332-108971333	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73420885	chr7:108971333-108971334	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108983200-108983600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:108983200-108983800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:108985400-108986000	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links