Variant report

Variant	nsv561915
Chromosome Location	chr13:64202642-64210398
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:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-2	chr13:64207475-64207529	XLOC_010411
2	lnc-AL445989.1-2	chr13:64208383-64208464	XLOC_010411
3	lnc-PCDH20-8	chr13:64204770-64204813	XLOC_010642
4	lnc-AL445989.1-2	chr13:64209594-64209643	XLOC_010411
5	lnc-AL445989.1-2	chr13:64207475-64207529	XLOC_010411
6	lnc-AL445989.1-2	chr13:64209594-64209643	XLOC_010411
7	lnc-AL445989.1-2	chr13:64208379-64208464	XLOC_010411

No data

Variant related genes	Relation type
PHTF2	miRNA target sites

Extended variants
information (count: 42 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541002301	chr13:64207489-64207490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs115353716	chr13:64207497-64207498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs143246646	chr13:64207498-64207499	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs1530404	chr13:64207520-64207521	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs117877434	chr13:64208385-64208386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs61063440	chr13:64208408-64208409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149893631	chr13:64208410-64208411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534866602	chr13:64208463-64208464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs568453559	chr13:64209626-64209627	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs578195796	chr13:64209633-64209634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs550821796	chr13:64209835-64209836	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186045659	chr13:64209876-64209877	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571546743	chr13:64209902-64209903	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529673332	chr13:64209927-64209928	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547770601	chr13:64209953-64209954	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566235140	chr13:64209986-64209987	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111634560	chr13:64210002-64210003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372213930	chr13:64210007-64210008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs386771706	chr13:64210019-64210020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs58622327	chr13:64210020-64210021	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572925789	chr13:64210039-64210040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs17088639	chr13:64210125-64210126	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538836723	chr13:64210156-64210157	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs17088641	chr13:64210160-64210161	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575999717	chr13:64210174-64210175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs543090883	chr13:64210175-64210176	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554955343	chr13:64210191-64210192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs371918090	chr13:64210192-64210193	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4883718	chr13:64210195-64210196	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1373304	chr13:64210196-64210197	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564953686	chr13:64210206-64210207	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532362750	chr13:64210214-64210215	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58549362	chr13:64210239-64210240	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573838549	chr13:64210283-64210284	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73500730	chr13:64210326-64210327	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544202835	chr13:64210336-64210337	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150207189	chr13:64210345-64210346	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547794550	chr13:64210348-64210349	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564002848	chr13:64210350-64210351	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182514860	chr13:64210387-64210388	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552278620	chr13:64210396-64210397	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4884502	chr13:64210398-64210399	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64209800-64210000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr13:64209800-64210200	Active TSS	Aorta	Aorta
3	chr13:64210000-64211000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr13:64210200-64210400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:64210200-64210400	Enhancers	Dnd41	blood
6	chr13:64210200-64211200	Active TSS	GM12878-XiMat	blood

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