Variant report

Variant	nsv562721
Chromosome Location	chr13:92476602-92548841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC6-3	chr13:92508013-92508180	NONHSAT034698
2	lnc-GPC6-3	chr13:92506911-92506952	NONHSAT034698
3	lnc-GPC6-4	chr13:92484168-92484579	l_901_chr13:92483239-92484579_testes
4	lnc-GPC6-4	chr13:92483240-92483466	l_901_chr13:92483239-92484579_testes

Extended variants
information (count: 547 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9523424	chr13:92476602-92476603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9515980	chr13:92476627-92476628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556115619	chr13:92476648-92476649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199655539	chr13:92476697-92476698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191317073	chr13:92476720-92476721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182310265	chr13:92476750-92476751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187014399	chr13:92476792-92476793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368227334	chr13:92476800-92476801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549115704	chr13:92476840-92476841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191914801	chr13:92476858-92476859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368126047	chr13:92476884-92476885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149975140	chr13:92476951-92476952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117924867	chr13:92476971-92476972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1332093	chr13:92477056-92477057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185151333	chr13:92477099-92477100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564813848	chr13:92477121-92477122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533654045	chr13:92477128-92477129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11838400	chr13:92477140-92477141	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188767383	chr13:92477190-92477191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531165270	chr13:92477254-92477255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548267388	chr13:92477300-92477301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568056761	chr13:92477336-92477337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549644406	chr13:92477370-92477371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193066783	chr13:92477410-92477411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147885671	chr13:92477499-92477500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570441309	chr13:92477507-92477508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539368746	chr13:92477508-92477509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185543760	chr13:92477614-92477615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75184622	chr13:92477649-92477650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535436811	chr13:92477658-92477659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116443724	chr13:92477679-92477680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572442364	chr13:92477699-92477700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567810251	chr13:92477731-92477732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541682498	chr13:92477792-92477793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564650767	chr13:92477827-92477828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189399022	chr13:92477962-92477963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544135381	chr13:92477963-92477964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139861063	chr13:92478007-92478008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531380882	chr13:92478105-92478106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76867293	chr13:92478143-92478144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145497732	chr13:92478165-92478166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76872569	chr13:92478195-92478196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567611177	chr13:92483249-92483250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs192534346	chr13:92483250-92483251	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs547957630	chr13:92483254-92483255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs538374454	chr13:92483264-92483265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs368944455	chr13:92483310-92483311	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs533848900	chr13:92483365-92483366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs556262468	chr13:92484231-92484232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs570005601	chr13:92484263-92484264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	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	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92476200-92478200	Enhancers	Fetal Lung	lung
2	chr13:92477200-92478200	Weak transcription	Brain Anterior Caudate	brain
3	chr13:92495200-92495600	Enhancers	Colon Smooth Muscle	Colon
4	chr13:92527200-92528200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:92528000-92528600	Enhancers	Primary hematopoietic stem cells	blood
6	chr13:92528400-92528800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:92535400-92535800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:92538400-92543400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:92540800-92541400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:92542400-92542800	Enhancers	Liver	Liver
11	chr13:92542400-92542800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr13:92542400-92543800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr13:92542400-92544000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr13:92543000-92543600	Enhancers	Primary hematopoietic stem cells	blood
15	chr13:92543400-92543800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:92543600-92550400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:92546400-92547400	Enhancers	HUVEC	blood vessel
18	chr13:92546800-92547600	Enhancers	Fetal Muscle Leg	muscle
19	chr13:92547400-92548600	Weak transcription	HUVEC	blood vessel
20	chr13:92548600-92550000	Enhancers	HUVEC	blood vessel

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