Variant report

Variant	nsv971570
Chromosome Location	chr7:126753415-126757393
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	CTCF	chr7:126754580-126754730	SK-N-SH_RA	brain:	n/a	n/a
2	FOS	chr7:126754803-126755064	MCF10A-Er-Src	breast:	n/a	chr7:126754903-126754910 chr7:126754928-126754936 chr7:126754902-126754910 chr7:126754902-126754911 chr7:126754901-126754910 chr7:126754928-126754935
3	FOS	chr7:126754756-126755001	MCF10A-Er-Src	breast:	n/a	chr7:126754903-126754910 chr7:126754928-126754936 chr7:126754902-126754910 chr7:126754902-126754911 chr7:126754901-126754910 chr7:126754928-126754935
4	FOS	chr7:126754766-126755026	MCF10A-Er-Src	breast:	n/a	chr7:126754903-126754910 chr7:126754928-126754936 chr7:126754902-126754910 chr7:126754902-126754911 chr7:126754901-126754910 chr7:126754928-126754935
5	FOS	chr7:126754851-126754981	MCF10A-Er-Src	breast:	n/a	chr7:126754903-126754910 chr7:126754928-126754936 chr7:126754902-126754910 chr7:126754902-126754911 chr7:126754901-126754910 chr7:126754928-126754935
6	JUND	chr7:126754771-126755030	HepG2	liver:	n/a	chr7:126754903-126754910 chr7:126754928-126754936 chr7:126754902-126754910 chr7:126754902-126754911 chr7:126754901-126754910 chr7:126754928-126754935 chr7:126754900-126754911
7	JUND	chr7:126754824-126755024	H1-hESC	embryonic stem cell:	n/a	chr7:126754903-126754910 chr7:126754928-126754936 chr7:126754902-126754910 chr7:126754902-126754911 chr7:126754901-126754910 chr7:126754928-126754935 chr7:126754900-126754911

Variant related genes	Relation type
GRM8	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558055579	chr7:126753445-126753446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573008485	chr7:126753463-126753464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111835382	chr7:126753494-126753495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17865555	chr7:126753501-126753502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13309000	chr7:126753528-126753529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs66659162	chr7:126753529-126753530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367926359	chr7:126753535-126753536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142957104	chr7:126753544-126753545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192819462	chr7:126753597-126753598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184385217	chr7:126753600-126753601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562607216	chr7:126753654-126753655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13239559	chr7:126753700-126753701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs545025487	chr7:126753702-126753703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572931291	chr7:126753721-126753722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11563716	chr7:126753750-126753751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73720662	chr7:126753775-126753776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77250127	chr7:126753820-126753821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549599456	chr7:126753865-126753866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372310735	chr7:126753918-126753919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561445250	chr7:126753989-126753990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555480796	chr7:126753990-126753991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189345024	chr7:126753993-126753994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374160077	chr7:126754049-126754050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372620018	chr7:126754084-126754085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191341725	chr7:126754100-126754101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147124765	chr7:126754121-126754122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567234124	chr7:126754167-126754168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28948974	chr7:126754194-126754195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566800340	chr7:126754195-126754196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17867388	chr7:126754197-126754198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533844261	chr7:126754290-126754291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374585428	chr7:126754321-126754322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185053701	chr7:126754330-126754331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189434980	chr7:126754377-126754378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201878786	chr7:126754393-126754394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556240263	chr7:126754398-126754399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73720663	chr7:126754408-126754409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17864962	chr7:126754410-126754411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560282712	chr7:126754427-126754428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181759340	chr7:126754446-126754447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542936766	chr7:126754447-126754448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141962010	chr7:126754458-126754459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116309002	chr7:126754500-126754501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550352537	chr7:126754548-126754549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549150218	chr7:126754558-126754559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17868890	chr7:126754597-126754598	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs185917734	chr7:126754600-126754601	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368643034	chr7:126754670-126754671	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs150663595	chr7:126754691-126754692	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113704410	chr7:126754711-126754712	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Prostate cancer	22341455	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126753400-126755400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:126754000-126755200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr7:126754200-126755400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:126754400-126755200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:126754400-126755200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:126754400-126755200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:126754400-126755400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:126754400-126755400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:126755000-126755200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:126755000-126755400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:126755800-126756000	Enhancers	H1 Cell Line	embryonic stem cell

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