Variant report

Variant	esv3413825
Chromosome Location	chr7:126730716-126733164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:126732800-126732925	GM12878	blood:	n/a	n/a
2	MYC	chr7:126731680-126731681	MCF-7	breast:	n/a	n/a
3	MYC	chr7:126731587-126731671	MCF-7	breast:	n/a	n/a
4	MYC	chr7:126732210-126732563	A549	lung:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126719826..126721988-chr7:126731679..126734281,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF800-1	chr7:126730963-126731067	NONHSAT123126
2	lnc-ZNF800-1	chr7:126730963-126730972	ENSG00000230206.1

No data

Variant related genes	Relation type
GRM8	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545379898	chr7:126730966-126730967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs17865312	chr7:126731004-126731005	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539837194	chr7:126731011-126731012	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs17869595	chr7:126731022-126731023	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs17867760	chr7:126731057-126731058	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373856631	chr7:126731639-126731640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575310613	chr7:126732224-126732225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545573832	chr7:126732248-126732249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564156906	chr7:126732268-126732269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs147134925	chr7:126732292-126732293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189520802	chr7:126732327-126732328	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540568475	chr7:126732345-126732346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181063104	chr7:126732362-126732363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567353833	chr7:126732478-126732479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529174351	chr7:126732479-126732480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs550799162	chr7:126732498-126732499	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs530681336	chr7:126732527-126732528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs138962857	chr7:126732532-126732533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs142907056	chr7:126732536-126732537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566890791	chr7:126732547-126732548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533945811	chr7:126732550-126732551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs555311509	chr7:126732557-126732558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs17866036	chr7:126732811-126732812	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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