Variant report

Variant	nsv561894
Chromosome Location	chr13:62952228-63013622
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr13:63006076-63006236	GM12878	blood:	n/a	n/a
2	BATF	chr13:63006059-63006198	GM12878	blood:	n/a	n/a
3	CEBPB	chr13:62992725-62993536	HepG2	liver:	n/a	chr13:62993169-62993186 chr13:62993491-62993504 chr13:62993170-62993183 chr13:62992903-62992914
4	CEBPB	chr13:62992716-62992954	H1-hESC	embryonic stem cell:	n/a	chr13:62992903-62992914
5	CEBPB	chr13:62993833-62994164	HepG2	liver:	n/a	chr13:62993989-62994000 chr13:62994029-62994040
6	CEBPB	chr13:62982024-62982379	Hela-S3	cervix:	n/a	chr13:62982199-62982210
7	CEBPB	chr13:62982041-62982367	K562	blood:	n/a	chr13:62982199-62982210
8	CEBPB	chr13:62965793-62966055	IMR90	lung:	n/a	chr13:62965909-62965926
9	CEBPB	chr13:62954943-62955081	A549	lung:	n/a	n/a
10	CEBPB	chr13:62982018-62982404	IMR90	lung:	n/a	chr13:62982199-62982210
11	CEBPB	chr13:62962655-62963003	IMR90	lung:	n/a	chr13:62962821-62962838
12	CEBPB	chr13:62992746-62993019	A549	lung:	n/a	chr13:62992903-62992914
13	CEBPB	chr13:62982026-62982390	HepG2	liver:	n/a	chr13:62982199-62982210
14	CEBPB	chr13:62992728-62993576	IMR90	lung:	n/a	chr13:62993169-62993186 chr13:62993491-62993504 chr13:62993170-62993183 chr13:62992903-62992914
15	CEBPB	chr13:62962630-62963014	Hela-S3	cervix:	n/a	chr13:62962821-62962838
16	CEBPB	chr13:62982015-62982375	A549	lung:	n/a	chr13:62982199-62982210
17	CEBPB	chr13:62982035-62982386	H1-hESC	embryonic stem cell:	n/a	chr13:62982199-62982210
18	CTCF	chr13:62962044-62962047	GM13977	blood:	n/a	n/a
19	CTCF	chr13:62985095-62985204	GM20000	blood:	n/a	n/a
20	CTCF	chr13:62961783-62962179	IMR90	lung:	n/a	n/a
21	CTCF	chr13:62961939-62962003	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr13:62961900-62962050	BE2_C	brain:	n/a	n/a
23	CTCF	chr13:62961876-62962075	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr13:62968000-62968150	GM06990	blood:	n/a	n/a
25	CTCF	chr13:62961892-62962033	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr13:62961936-62962005	GM12878	blood:	n/a	n/a
27	CTCF	chr13:62961900-62962050	HPF	lung:	n/a	n/a
28	CTCF	chr13:62961820-62961970	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr13:62959871-62959950	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr13:62961880-62962030	NHDF-neo	bronchial:	n/a	n/a
31	CTCF	chr13:62961918-62962010	GM10248	blood:	n/a	n/a
32	CTCF	chr13:62961820-62961970	HMF	breast:	n/a	n/a
33	CTCF	chr13:62961880-62962030	HPF	lung:	n/a	n/a
34	CTCF	chr13:62961920-62962070	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr13:62961934-62961979	GM10266	blood:	n/a	n/a
36	CTCF	chr13:62961860-62962010	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr13:62961759-62962108	HCT-116	colon:	n/a	n/a
38	CTCF	chr13:62961800-62961950	GM06990	blood:	n/a	n/a
39	CTCF	chr13:62961900-62962050	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr13:62961880-62962030	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr13:62961871-62962079	Medullo	brain:	n/a	n/a
42	CTCF	chr13:62961980-62962130	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr13:62976549-62976583	Lung_OC	lung:	n/a	n/a
44	CTCF	chr13:62961920-62962070	HMEC	breast:	n/a	n/a
45	CTCF	chr13:62961840-62961990	AG04450	lung:	n/a	n/a
46	CTCF	chr13:62961760-62961910	BE2_C	brain:	n/a	n/a
47	CTCF	chr13:62961898-62962039	LNCaP	prostate:	n/a	n/a
48	CTCF	chr13:62977960-62978110	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr13:62961810-62962140	GM12878	blood:	n/a	n/a
50	CTCF	chr13:62961944-62962041	GM13977	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:62982316..62982836-chr17:41438032..41438534,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH20-15	chr13:62980191-62981049	NONHSAT034145

Variant related genes	Relation type
SQSTM1P1	TF binding region

Extended variants
information (count: 422 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:422 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571628700	chr13:62961200-62961201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372453080	chr13:62961223-62961224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71439933	chr13:62961226-62961227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143088556	chr13:62961268-62961269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17061308	chr13:62961324-62961325	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572425090	chr13:62961358-62961359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188035760	chr13:62961406-62961407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386771592	chr13:62961432-62961433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191398234	chr13:62961434-62961435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183956833	chr13:62961435-62961436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562391646	chr13:62961511-62961512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71439935	chr13:62961533-62961534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541250342	chr13:62961554-62961555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559924831	chr13:62961556-62961557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532883888	chr13:62961580-62961581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551464230	chr13:62961597-62961598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548039030	chr13:62961598-62961599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12431026	chr13:62961599-62961600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs372664502	chr13:62961600-62961601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567205924	chr13:62961631-62961632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12431035	chr13:62961644-62961645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553438522	chr13:62961676-62961677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148183616	chr13:62961680-62961681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141153754	chr13:62961738-62961739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539511107	chr13:62961764-62961765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368895530	chr13:62961780-62961781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558237317	chr13:62961802-62961803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117146938	chr13:62961803-62961804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578055795	chr13:62961876-62961877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539007054	chr13:62961894-62961895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12428082	chr13:62961896-62961897	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555832757	chr13:62961905-62961906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541195197	chr13:62961939-62961940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12431064	chr13:62961967-62961968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187595969	chr13:62961980-62961981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113256651	chr13:62962009-62962010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs533574541	chr13:62962029-62962030	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs544749304	chr13:62962033-62962034	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs35554166	chr13:62962054-62962055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs66531564	chr13:62962055-62962056	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563398623	chr13:62962063-62962064	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563058925	chr13:62962089-62962090	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549648379	chr13:62962129-62962130	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150479690	chr13:62962142-62962143	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs548546241	chr13:62962159-62962160	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs138494844	chr13:62962165-62962166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs192827499	chr13:62962221-62962222	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551770346	chr13:62962232-62962233	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs571592944	chr13:62962250-62962251	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571310213	chr13:62962254-62962255	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62961200-62962400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:62961800-62962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:62962000-62962200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr13:62962000-62962200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:62962000-62962400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:62962000-62962400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr13:62962200-62962400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:62962400-62962800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:62962600-62963000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:62968000-62970200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr13:62979800-62980200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr13:62989800-62990200	Enhancers	Fetal Brain Male	brain
13	chr13:62992600-62992800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:62992800-62993800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:62993400-62993600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:63006800-63008000	Enhancers	HUES48 Cell Line	embryonic stem cell

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