Variant report

Variant	nsv366786
Chromosome Location	chr7:27445675-27448683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27238414-27242313..7:27439194-27449722	K562	blood:
2	chr7:27444592..27446953-chr7:27450325..27451883,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-14	chr7:27448428-27448577	XLOC_006028
2	lnc-EVX1-14	chr7:27448428-27448577	ENSG00000244597
3	lnc-EVX1-14	chr7:27448428-27448577	XLOC_006028
4	lnc-EVX1-14	chr7:27448428-27448644	XLOC_006028
5	lnc-EVX1-14	chr7:27448428-27448474	XLOC_006028

No data

Variant related genes	Relation type
ENSG00000243766	chromatin interactions
ENSG00000106031	chromatin interactions
MTMR10	miRNA target sites
LCA5	miRNA target sites

Extended variants
information (count: 118 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562367293	chr7:27445691-27445692	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529721023	chr7:27445737-27445738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559561433	chr7:27445739-27445740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs7784592	chr7:27445740-27445741	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs28398557	chr7:27445751-27445752	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35285103	chr7:27445762-27445763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs7784618	chr7:27445774-27445775	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545066364	chr7:27445775-27445776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564849384	chr7:27445847-27445848	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570718294	chr7:27445853-27445854	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs138485145	chr7:27445860-27445861	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs550615202	chr7:27445863-27445864	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs79125713	chr7:27445881-27445882	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149624619	chr7:27445899-27445900	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs568338358	chr7:27445935-27445936	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs28357244	chr7:27445956-27445957	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs67918676	chr7:27445957-27445958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77295199	chr7:27445970-27445971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7784783	chr7:27446003-27446004	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529442727	chr7:27446010-27446011	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371668772	chr7:27446015-27446016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549420984	chr7:27446016-27446017	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566079949	chr7:27446023-27446024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572214025	chr7:27446024-27446025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539605318	chr7:27446033-27446034	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs17429684	chr7:27446089-27446090	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576300830	chr7:27446103-27446104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543687338	chr7:27446172-27446173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs17429691	chr7:27446180-27446181	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555445811	chr7:27446196-27446197	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs7784973	chr7:27446199-27446200	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541855782	chr7:27446215-27446216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559945922	chr7:27446223-27446224	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527390732	chr7:27446243-27446244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs180953088	chr7:27446254-27446255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs17429698	chr7:27446267-27446268	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531562349	chr7:27446272-27446273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531057660	chr7:27446279-27446280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs11978918	chr7:27446285-27446286	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13226063	chr7:27446330-27446331	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs28398558	chr7:27446377-27446378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs17439312	chr7:27446419-27446420	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547783052	chr7:27446423-27446424	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565805086	chr7:27446434-27446435	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539567514	chr7:27446437-27446438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557859472	chr7:27446438-27446439	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs143287418	chr7:27446451-27446452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs537692826	chr7:27446466-27446467	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs117159147	chr7:27446502-27446503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536489705	chr7:27446508-27446509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27444800-27458000	Weak transcription	Pancreas	Pancrea
2	chr7:27444800-27458000	Weak transcription	Stomach Mucosa	stomach
3	chr7:27447200-27448400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:27447600-27449000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:27448400-27449200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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