Variant report

Variant	nsv970996
Chromosome Location	chr7:7040440-7040940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4074749	chr7:7040475-7040476	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4074748	chr7:7040500-7040501	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs568742222	chr7:7040501-7040502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376813999	chr7:7040517-7040518	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535736607	chr7:7040534-7040535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs182177586	chr7:7040572-7040573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs572331133	chr7:7040585-7040586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539629524	chr7:7040603-7040604	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6463625	chr7:7040611-7040612	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs149998265	chr7:7040635-7040636	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6463626	chr7:7040695-7040696	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs4724906	chr7:7040742-7040743	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184330032	chr7:7040760-7040761	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140365750	chr7:7040810-7040811	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189081810	chr7:7040818-7040819	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74991662	chr7:7040856-7040857	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527517999	chr7:7040857-7040858	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137955429	chr7:7040869-7040870	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77387773	chr7:7040883-7040884	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111719013	chr7:7040893-7040894	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561137712	chr7:7040894-7040895	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28479648	chr7:7040904-7040905	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6463627	chr7:7040907-7040908	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111848695	chr7:7040916-7040917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112985913	chr7:7040929-7040930	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549762642	chr7:7040930-7040931	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7032400-7051800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7035600-7041400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:7039200-7042200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:7039600-7053800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:7040200-7040800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:7040200-7050800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:7040400-7040600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:7040600-7040800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:7040600-7041000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:7040600-7042600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:7040800-7041000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:7040800-7041000	Enhancers	K562	blood
13	chr7:7040800-7042200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:7040800-7042800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:7040800-7043200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:7040800-7043600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:7040800-7043600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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