Variant report

Variant	esv3514861
Chromosome Location	chr7:151013564-151013844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:151013058..151017462-chr7:151018233..151022450,5	K562	blood:
2	chr7:151013498..151016044-chr7:151046792..151049523,2	K562	blood:
3	chr7:151007559..151010367-chr7:151010693..151013847,5	K562	blood:
4	chr7:151013126..151016006-chr7:151088424..151091352,2	K562	blood:
5	chr7:151012714..151015510-chr7:151035610..151039303,3	K562	blood:

Variant related genes	Relation type
ENSG00000013374	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79801380	chr7:151013576-151013577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2487160	chr7:151013577-151013578	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187993960	chr7:151013581-151013582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368883870	chr7:151013614-151013615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs193041997	chr7:151013622-151013623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554509130	chr7:151013627-151013628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574517206	chr7:151013635-151013636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs58625563	chr7:151013680-151013681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6973929	chr7:151013682-151013683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184665707	chr7:151013704-151013705	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189376902	chr7:151013709-151013710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13308964	chr7:151013727-151013728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373149612	chr7:151013764-151013765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200692487	chr7:151013769-151013770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17134612	chr7:151013785-151013786	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201496631	chr7:151013788-151013789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572054899	chr7:151013792-151013793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576961271	chr7:151013828-151013829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545724789	chr7:151013840-151013841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151010800-151015800	Weak transcription	Right Atrium	heart
2	chr7:151012200-151014400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:151012200-151014400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links