Variant report

Variant	nsv520493
Chromosome Location	chr7:16581890-16584470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:61904198..61906383-chr7:16582501..16585104,2	MCF-7	breast:
2	chr7:16572386..16575354-chr7:16579474..16582374,2	K562	blood:
3	chr7:16532204..16534776-chr7:16581975..16583734,2	K562	blood:
4	chr7:16576435..16578704-chr7:16580633..16582179,2	K562	blood:

Variant related genes	Relation type
ENSG00000108592	chromatin interactions
ENSG00000087191	chromatin interactions

Extended variants
information (count: 99 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6945188	chr7:16581890-16581891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73297273	chr7:16581906-16581907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192068120	chr7:16581925-16581926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370045437	chr7:16581950-16581951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529927038	chr7:16581967-16581968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543421752	chr7:16582015-16582016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184823181	chr7:16582029-16582030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377452648	chr7:16582063-16582064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570166100	chr7:16582074-16582075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138231701	chr7:16582075-16582076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189240884	chr7:16582080-16582081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570803904	chr7:16582109-16582110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180993798	chr7:16582138-16582139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78062212	chr7:16582169-16582170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143725217	chr7:16582184-16582185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535658838	chr7:16582187-16582188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184171245	chr7:16582201-16582202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575773984	chr7:16582215-16582216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537148571	chr7:16582255-16582256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189852200	chr7:16582271-16582272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181451662	chr7:16582333-16582334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536372537	chr7:16582356-16582357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540632414	chr7:16582400-16582401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569339024	chr7:16582404-16582405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375941155	chr7:16582436-16582437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185666380	chr7:16582525-16582526	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs190770513	chr7:16582526-16582527	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181521682	chr7:16582535-16582536	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370287713	chr7:16582565-16582566	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531073029	chr7:16582591-16582592	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552626054	chr7:16582613-16582614	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564391403	chr7:16582614-16582615	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528509671	chr7:16582615-16582616	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs517529	chr7:16582628-16582629	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs74858838	chr7:16582686-16582687	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs76986589	chr7:16582717-16582718	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs186496965	chr7:16582725-16582726	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550810592	chr7:16582732-16582733	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs539248362	chr7:16582744-16582745	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs536778044	chr7:16582759-16582760	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs371568566	chr7:16582762-16582763	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs191838054	chr7:16582779-16582780	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576833561	chr7:16582826-16582827	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs534614273	chr7:16582844-16582845	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558880610	chr7:16582889-16582890	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550398155	chr7:16582919-16582920	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs574824448	chr7:16582991-16582992	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542140532	chr7:16582993-16582994	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs182880675	chr7:16583024-16583025	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs78233054	chr7:16583030-16583031	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16581000-16584400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:16582000-16582200	Enhancers	Fetal Intestine Large	intestine
3	chr7:16582200-16583200	Weak transcription	Fetal Intestine Large	intestine
4	chr7:16582200-16583800	Enhancers	Stomach Mucosa	stomach
5	chr7:16583200-16583600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:16583200-16583600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:16583200-16584000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:16583200-16584000	Enhancers	Fetal Intestine Large	intestine

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