Variant report

Variant	nsv977268
Chromosome Location	chr13:92992054-92996254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:92992726-92992736	LNCaP	prostate:	n/a	n/a
2	EP300	chr13:92993101-92993589	K562	blood:	n/a	n/a
3	EP300	chr13:92993559-92993628	GM12878	blood:	n/a	n/a
4	IRF1	chr13:92994489-92994991	K562	blood:	n/a	n/a
5	IRF1	chr13:92993520-92993571	K562	blood:	n/a	n/a
6	IRF1	chr13:92992290-92992700	K562	blood:	n/a	n/a
7	IRF1	chr13:92994904-92994990	K562	blood:	n/a	n/a
8	JUN	chr13:92991320-92992369	K562	blood:	n/a	n/a
9	JUN	chr13:92995991-92996336	K562	blood:	n/a	chr13:92996094-92996103
10	KAP1	chr13:92993112-92993558	K562	blood:	n/a	n/a
11	MXI1	chr13:92993040-92993432	K562	blood:	n/a	chr13:92993228-92993237
12	POLR2A	chr13:92995358-92995673	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr13:92995346-92995617	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr13:92995420-92995454	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr13:92995884-92996181	K562	blood:	n/a	n/a
16	STAT3	chr13:92994395-92994489	MCF10A-Er-Src	breast:	n/a	n/a
17	TAL1	chr13:92995339-92995522	K562	blood:	n/a	n/a
18	UBTF	chr13:92992066-92992213	K562	blood:	n/a	n/a
19	UBTF	chr13:92995407-92995604	K562	blood:	n/a	n/a
20	UBTF	chr13:92994584-92994687	K562	blood:	n/a	n/a
21	ZNF274	chr13:92993667-92996209	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92995861..92998163-chr13:93022468..93024947,2	K562	blood:
2	chr13:92987424..92989331-chr13:92989713..92992513,2	K562	blood:
3	chr13:92968259..92969910-chr13:92996026..92998901,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-5	chr13:92992650-92992856	ENSG00000232885.1
2	lnc-DCT-5	chr13:92992047-92992240	ENSG00000232885.1

No data

Variant related genes	Relation type
GPC5-AS2	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149077588	chr13:92992096-92992097	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs540733026	chr13:92992132-92992133	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560254745	chr13:92992152-92992153	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs35254585	chr13:92992155-92992156	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577398736	chr13:92992176-92992177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs543240286	chr13:92992177-92992178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs546067686	chr13:92992179-92992180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs36048472	chr13:92992203-92992204	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531780051	chr13:92992212-92992213	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs548547561	chr13:92992222-92992223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567175940	chr13:92992231-92992232	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs150110182	chr13:92992656-92992657	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs4499103	chr13:92992685-92992686	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576812657	chr13:92992686-92992687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs61966640	chr13:92992780-92992781	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs376491854	chr13:92992783-92992784	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs368910942	chr13:92992786-92992787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs191727666	chr13:92992794-92992795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs372836619	chr13:92992803-92992804	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs562839408	chr13:92992854-92992855	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs183497884	chr13:92992855-92992856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs544008802	chr13:92993041-92993042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs34374606	chr13:92993067-92993068	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115190462	chr13:92993108-92993109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs546354467	chr13:92993137-92993138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs560321341	chr13:92993200-92993201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143134481	chr13:92993215-92993216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs188993985	chr13:92993223-92993224	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs568882332	chr13:92993273-92993274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs72638657	chr13:92993278-92993279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs34825397	chr13:92993281-92993282	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568142205	chr13:92993282-92993283	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs534028484	chr13:92993290-92993291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs553840940	chr13:92993381-92993382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192628042	chr13:92993508-92993509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs34669502	chr13:92993531-92993532	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535157329	chr13:92993532-92993533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs77033436	chr13:92993556-92993557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs183621430	chr13:92993565-92993566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs35605374	chr13:92993572-92993573	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs77885509	chr13:92993595-92993596	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs74644524	chr13:92993608-92993609	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs541682662	chr13:92993719-92993720	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560284408	chr13:92993722-92993723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs116203065	chr13:92993821-92993822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs566716875	chr13:92993892-92993893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs186805056	chr13:92993911-92993912	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532318996	chr13:92993946-92993947	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs34240704	chr13:92993962-92993963	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs61966641	chr13:92993970-92993971	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92994400-92998200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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