Variant report

Variant	nsv970432
Chromosome Location	chr7:147075290-147080148
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	MAFF	chr7:147076661-147076914	HepG2	liver:	n/a	n/a
2	MAFK	chr7:147076631-147076877	HepG2	liver:	n/a	chr7:147076772-147076787
3	MAFK	chr7:147076737-147076845	K562	blood:	n/a	chr7:147076772-147076787
4	MAFK	chr7:147076622-147076946	HepG2	liver:	n/a	chr7:147076772-147076787
5	POLR2A	chr7:147079663-147079797	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr7:147075732-147075917	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:147063148..147065759-chr7:147077085..147079029,2	K562	blood:

Variant related genes	Relation type
MIR548F4	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539453106	chr7:147075734-147075735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143605631	chr7:147075735-147075736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs530645620	chr7:147075780-147075781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs191622550	chr7:147075803-147075804	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs77671914	chr7:147075810-147075811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183828939	chr7:147075872-147075873	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs572444488	chr7:147075878-147075879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541541322	chr7:147075912-147075913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537518226	chr7:147076612-147076613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556735748	chr7:147076613-147076614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138575193	chr7:147076693-147076694	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550207939	chr7:147076725-147076726	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533100211	chr7:147076744-147076745	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549799975	chr7:147076750-147076751	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs826812	chr7:147076788-147076789	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182072113	chr7:147076806-147076807	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs114466276	chr7:147076826-147076827	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565840948	chr7:147076844-147076845	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534470530	chr7:147076846-147076847	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557571719	chr7:147076850-147076851	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs368641114	chr7:147076858-147076859	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4142824	chr7:147076864-147076865	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572397966	chr7:147076889-147076890	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369209461	chr7:147076909-147076910	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs186559443	chr7:147076973-147076974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs826813	chr7:147076974-147076975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs9648846	chr7:147077021-147077022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376235170	chr7:147077047-147077048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528802123	chr7:147077060-147077061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs997223	chr7:147077078-147077079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs369087205	chr7:147077097-147077098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs826814	chr7:147077145-147077146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533035930	chr7:147077173-147077174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549881454	chr7:147077207-147077208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569673569	chr7:147077251-147077252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528836200	chr7:147077298-147077299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548711948	chr7:147077328-147077329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565955591	chr7:147077330-147077331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200364174	chr7:147077352-147077353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534649218	chr7:147077361-147077362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551141803	chr7:147077414-147077415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571145608	chr7:147077488-147077489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115529006	chr7:147077499-147077500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557397159	chr7:147077555-147077556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113014611	chr7:147077557-147077558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73475219	chr7:147077603-147077604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139919243	chr7:147077620-147077621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573574743	chr7:147077642-147077643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190151028	chr7:147077643-147077644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565461769	chr7:147077646-147077647	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147076600-147077000	Enhancers	Fetal Brain Male	brain
2	chr7:147077000-147077400	Weak transcription	Fetal Brain Male	brain
3	chr7:147077400-147078400	Enhancers	Fetal Brain Male	brain
4	chr7:147078200-147078800	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links