Variant report

Variant	nsv562095
Chromosome Location	chr13:66526619-66593883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:357)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr13:66589547-66589747	K562	blood:	n/a	n/a
2	CEBPB	chr13:66585133-66585269	A549	lung:	n/a	n/a
3	CEBPB	chr13:66559705-66560073	MCF-7	breast:	n/a	n/a
4	CEBPB	chr13:66559601-66560095	MCF-7	breast:	n/a	n/a
5	CEBPB	chr13:66574571-66574786	HepG2	liver:	n/a	chr13:66574676-66574685 chr13:66574675-66574686 chr13:66574674-66574685
6	CEBPB	chr13:66569441-66569593	IMR90	lung:	n/a	n/a
7	CEBPB	chr13:66539663-66539995	IMR90	lung:	n/a	n/a
8	CEBPB	chr13:66571439-66571773	IMR90	lung:	n/a	n/a
9	CTCF	chr13:66541180-66541330	HMEC	breast:	n/a	n/a
10	CTCF	chr13:66541160-66541310	GM12878	blood:	n/a	n/a
11	CTCF	chr13:66559878-66560067	HepG2	liver:	n/a	n/a
12	CTCF	chr13:66559856-66560070	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr13:66541100-66541390	LNCaP	prostate:	n/a	n/a
14	CTCF	chr13:66579540-66579690	BE2_C	brain:	n/a	n/a
15	CTCF	chr13:66559880-66560030	HepG2	liver:	n/a	n/a
16	CTCF	chr13:66541068-66541598	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr13:66547742-66547802	GM20000	blood:	n/a	n/a
18	CTCF	chr13:66541200-66541350	HVMF	connective:	n/a	n/a
19	CTCF	chr13:66541160-66541310	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr13:66541180-66541330	AG10803	skin:	n/a	n/a
21	CTCF	chr13:66559909-66560061	HepG2	liver:	n/a	n/a
22	CTCF	chr13:66541160-66541310	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr13:66559771-66560110	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr13:66541180-66541330	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr13:66559756-66560123	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr13:66541232-66541252	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr13:66559860-66560130	MCF-7	breast:	n/a	n/a
28	CTCF	chr13:66560020-66560170	MCF-7	breast:	n/a	n/a
29	CTCF	chr13:66541093-66541356	HepG2	liver:	n/a	n/a
30	CTCF	chr13:66541180-66541330	AG09309	skin:	n/a	n/a
31	CTCF	chr13:66541100-66541250	HVMF	connective:	n/a	n/a
32	CTCF	chr13:66541160-66541310	HCM	heart:	n/a	n/a
33	CTCF	chr13:66541220-66541370	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr13:66541180-66541330	NHLF	lung:	n/a	n/a
35	CTCF	chr13:66559980-66560130	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr13:66559884-66560049	A549	lung:	n/a	n/a
37	CTCF	chr13:66559900-66560050	HRE	kidney:	n/a	n/a
38	CTCF	chr13:66541140-66541290	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr13:66559885-66560080	MCF-7	breast:	n/a	n/a
40	CTCF	chr13:66541160-66541310	GM12869	blood:	n/a	n/a
41	CTCF	chr13:66541180-66541330	AG04449	skin:	n/a	n/a
42	CTCF	chr13:66541180-66541330	HMF	breast:	n/a	n/a
43	CTCF	chr13:66541199-66541210	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr13:66541120-66541270	GM12873	blood:	n/a	n/a
45	CTCF	chr13:66559945-66560008	NHEK	skin:	n/a	n/a
46	CTCF	chr13:66541010-66541452	ECC-1	luminal epithelium:	n/a	n/a
47	CTCF	chr13:66541200-66541350	A549	lung:	n/a	n/a
48	CTCF	chr13:66541140-66541290	AG04449	skin:	n/a	n/a
49	CTCF	chr13:66559840-66559990	RPTEC	kidney:	n/a	n/a
50	CTCF	chr13:66541160-66541310	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:66583686-66583736	ProgFib	skin:	n/a
2	chr13:66583583-66583633	ProgFib	skin:	n/a
3	chr13:66583686-66583736	BJ	skin:	n/a
4	chr13:66583686-66583736	PANC-1	pancreas:	n/a
5	chr13:66583686-66583736	AoSMC	blood vessel:	n/a
6	chr13:66583686-66583736	AG04449	skin:	fetal
7	chr13:66583686-66583736	HNPCEpiC	eye:	n/a
8	chr13:66583583-66583633	HCPEpiC	choroid plexus:	n/a
9	chr13:66583686-66583736	HUVEC	blood vessel:	n/a
10	chr13:66583583-66583633	SAEC	small airway:	n/a
11	chr13:66583686-66583736	CMK	blood:	n/a
12	chr13:66583686-66583736	ovcar-3	ovarian:	n/a
13	chr13:66583583-66583633	PrEC	prostate:	n/a
14	chr13:66583686-66583736	Jurkat	blood:	n/a
15	chr13:66583686-66583736	IMR90	lung:	fetal
16	chr13:66583583-66583633	HCT-116	colon:	n/a
17	chr13:66583686-66583736	Caco-2	colon:	n/a
18	chr13:66583583-66583633	H1-hESC	embryonic stem cell:	embryo
19	chr13:66583583-66583633	HEK293	kidney:	embryo
20	chr13:66583583-66583633	HMEC	breast:	n/a
21	chr13:66583686-66583736	HEK293	kidney:	embryo
22	chr13:66583583-66583633	HCF	heart:	n/a
23	chr13:66583583-66583633	HUVEC	blood vessel:	n/a
24	chr13:66583583-66583633	HEEpiC	esophagus:	n/a
25	chr13:66583583-66583633	BE2_C	brain:	n/a
26	chr13:66583583-66583633	PFSK-1	brain:	n/a
27	chr13:66583686-66583736	SK-N-MC	brain:	n/a
28	chr13:66583686-66583736	Hepatocyte	liver:	n/a
29	chr13:66583583-66583633	GM06990	blood:	n/a
30	chr13:66583686-66583736	SK-N-SH	brain:	n/a
31	chr13:66583583-66583633	AG10803	skin:	n/a
32	chr13:66583583-66583633	GM19239	blood:	n/a
33	chr13:66583583-66583633	HepG2	liver:	n/a
34	chr13:66583583-66583633	HPAEpiC	pulmonary alveolar:	n/a
35	chr13:66583583-66583633	PANC-1	pancreas:	n/a
36	chr13:66583583-66583633	AG09309	skin:	n/a
37	chr13:66583583-66583633	HIPEpiC	eye:	n/a
38	chr13:66583686-66583736	U87	brain:	n/a
39	chr13:66583686-66583736	PrEC	prostate:	n/a
40	chr13:66583686-66583736	HEEpiC	esophagus:	n/a
41	chr13:66583583-66583633	GM12878	blood:	n/a
42	chr13:66583686-66583736	AG09309	skin:	n/a
43	chr13:66583583-66583633	AG04450	lung:	fetal
44	chr13:66583686-66583736	HRE	kidney:	n/a
45	chr13:66583686-66583736	HL-60	blood:	n/a
46	chr13:66583583-66583633	MCF-7	breast:	n/a
47	chr13:66583686-66583736	HCT-116	colon:	n/a
48	chr13:66583583-66583633	HCM	heart:	n/a
49	chr13:66583686-66583736	SAEC	small airway:	n/a
50	chr13:66583583-66583633	AG04449	skin:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:66230680..66231446-chr13:66540896..66541772,3	MCF-7	breast:
2	chr13:66582815..66585533-chr13:66632919..66634778,2	K562	blood:
3	chr13:66557440..66557967-chr13:82054818..82055319,2	MCF-7	breast:
4	chr13:66500564..66501578-chr13:66540848..66541721,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-11	chr13:66569686-66569896	XLOC_010416
2	lnc-AL445989.1-10	chr13:66546596-66551943	XLOC_010415
3	lnc-AL445989.1-11	chr13:66569993-66570140	XLOC_010416

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548x-3p	chr13:66540484-66540503	MIMAT0015081

No data

Variant related genes	Relation type
MIR548X2	TF binding region
MIR548X2	CpG island
INO80D	miRNA target sites

Extended variants
information (count: 954 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3904009	chr13:66526619-66526620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555450579	chr13:66526693-66526694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182510207	chr13:66526717-66526718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546800722	chr13:66526735-66526736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566677233	chr13:66526823-66526824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563848427	chr13:66526850-66526851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77079585	chr13:66526998-66526999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540725752	chr13:66527011-66527012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552779290	chr13:66527034-66527035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377646726	chr13:66527036-66527037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530135974	chr13:66527073-66527074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78264834	chr13:66527123-66527124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545307340	chr13:66527134-66527135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76483461	chr13:66527146-66527147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556889540	chr13:66527165-66527166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573991905	chr13:66527170-66527171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187202800	chr13:66527184-66527185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553298134	chr13:66527198-66527199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150809353	chr13:66527241-66527242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116185959	chr13:66527324-66527325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558811219	chr13:66527330-66527331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191288684	chr13:66527348-66527349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573635742	chr13:66527355-66527356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183870161	chr13:66527396-66527397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544295460	chr13:66527439-66527440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189564892	chr13:66527462-66527463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530934578	chr13:66527511-66527512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9564292	chr13:66527512-66527513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375584691	chr13:66527580-66527581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560404442	chr13:66527607-66527608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532605842	chr13:66527609-66527610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552718111	chr13:66527659-66527660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144319176	chr13:66527695-66527696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139685526	chr13:66527768-66527769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149780150	chr13:66527770-66527771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550307894	chr13:66527773-66527774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567314787	chr13:66527806-66527807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536242282	chr13:66527830-66527831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193066587	chr13:66527904-66527905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111417253	chr13:66527957-66527958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561254959	chr13:66528042-66528043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370219749	chr13:66528114-66528115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558684193	chr13:66528132-66528133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575657784	chr13:66528149-66528150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532897275	chr13:66528174-66528175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544648339	chr13:66528185-66528186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139634736	chr13:66528207-66528208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574533552	chr13:66528258-66528259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111681125	chr13:66528264-66528265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373163047	chr13:66528274-66528275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Intellectual disability	21811512	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:66516800-66531000	Weak transcription	Left Ventricle	heart
2	chr13:66531000-66531400	Enhancers	Left Ventricle	heart
3	chr13:66533000-66533800	Enhancers	HMEC	breast
4	chr13:66533200-66537400	Weak transcription	Aorta	Aorta
5	chr13:66533800-66538600	Weak transcription	HMEC	breast
6	chr13:66537400-66537600	ZNF genes & repeats	Aorta	Aorta
7	chr13:66537600-66538000	Weak transcription	Aorta	Aorta
8	chr13:66538600-66539000	Enhancers	HMEC	breast
9	chr13:66538800-66539200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:66538800-66539800	Enhancers	NHDF-Ad	bronchial
11	chr13:66538800-66540600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:66539600-66540200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:66540200-66541200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:66540600-66541000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:66541000-66541800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:66541200-66542000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:66545000-66545600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:66545000-66546000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:66545000-66546000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr13:66545000-66546000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:66545200-66546000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr13:66545400-66545800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr13:66545400-66546000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:66545400-66546000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:66545600-66546000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:66546400-66547000	Enhancers	Aorta	Aorta
27	chr13:66551800-66552000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr13:66559600-66559800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:66562400-66562600	Enhancers	Left Ventricle	heart
30	chr13:66566400-66566800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:66575000-66575600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr13:66575200-66575600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:66584800-66587400	Active TSS	K562	blood

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