Variant report

Variant	nsv514700
Chromosome Location	chr13:52859983-52889835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr13:52884093-52884361	K562	blood:	n/a	n/a
2	CBX3	chr13:52874759-52875007	K562	blood:	n/a	n/a
3	CBX3	chr13:52884107-52884381	K562	blood:	n/a	n/a
4	CBX3	chr13:52874658-52875125	K562	blood:	n/a	n/a
5	CEBPB	chr13:52864873-52864902	HepG2	liver:	n/a	n/a
6	CTCF	chr13:52877302-52877399	LNCaP	prostate:	n/a	n/a
7	CTCF	chr13:52877275-52877391	MCF-7	breast:	n/a	n/a
8	CTCF	chr13:52869457-52869474	A549	lung:	n/a	n/a
9	CTCF	chr13:52877268-52877380	NHEK	skin:	n/a	n/a
10	CTCF	chr13:52860309-52860388	Fibrobl	skin:	n/a	n/a
11	CTCF	chr13:52867234-52867278	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:52882914-52882946	GM10266	blood:	n/a	n/a
13	CTCF	chr13:52877285-52877377	MCF-7	breast:	n/a	n/a
14	CTCF	chr13:52877232-52877374	MCF-7	breast:	n/a	n/a
15	CTCF	chr13:52862405-52862481	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr13:52877305-52877327	Fibrobl	skin:	n/a	n/a
17	CTCF	chr13:52877300-52877339	GM10266	blood:	n/a	n/a
18	CTCF	chr13:52877285-52877289	Fibrobl	skin:	n/a	n/a
19	EBF1	chr13:52876202-52876545	GM12878	blood:	n/a	n/a
20	EBF1	chr13:52876291-52876542	GM12878	blood:	n/a	n/a
21	KAP1	chr13:52883935-52884485	HEK293	kidney:	n/a	n/a
22	MYC	chr13:52863181-52863214	MCF-7	breast:	n/a	n/a
23	PAX5	chr13:52876310-52876472	GM12878	blood:	n/a	n/a
24	PAX5	chr13:52876282-52876473	GM12878	blood:	n/a	n/a
25	PBX3	chr13:52871393-52871619	GM12878	blood:	n/a	n/a
26	POLR2A	chr13:52875964-52876161	MCF-7	breast:	n/a	n/a
27	POLR2A	chr13:52875998-52876089	A549	lung:	n/a	n/a
28	POLR2A	chr13:52876470-52876649	ProgFib	skin:	n/a	n/a
29	POLR2A	chr13:52889732-52889804	K562	blood:	n/a	n/a
30	POLR2A	chr13:52863125-52863320	MCF-7	breast:	n/a	n/a
31	POLR2A	chr13:52887348-52887350	A549	lung:	n/a	n/a
32	POLR2A	chr13:52865475-52865550	MCF-7	breast:	n/a	n/a
33	POLR2A	chr13:52881724-52881884	A549	lung:	n/a	n/a
34	POLR2A	chr13:52863121-52863222	MCF-7	breast:	n/a	n/a
35	POLR2A	chr13:52876675-52876879	MCF-7	breast:	n/a	n/a
36	POLR2A	chr13:52881784-52881802	MCF-7	breast:	n/a	n/a
37	POLR2A	chr13:52863054-52863063	A549	lung:	n/a	n/a
38	POLR2A	chr13:52865330-52865409	MCF-7	breast:	n/a	n/a
39	POLR2A	chr13:52863026-52863052	A549	lung:	n/a	n/a
40	POLR2A	chr13:52881803-52881821	MCF-7	breast:	n/a	n/a
41	POLR2A	chr13:52861074-52861126	MCF-7	breast:	n/a	n/a
42	POLR2A	chr13:52863067-52863262	A549	lung:	n/a	n/a
43	POLR2A	chr13:52860336-52860405	MCF-7	breast:	n/a	n/a
44	POLR2A	chr13:52881768-52881852	MCF-7	breast:	n/a	n/a
45	REST	chr13:52874362-52874459	GM12878	blood:	n/a	n/a
46	SETDB1	chr13:52884023-52884542	U2OS	brain:	n/a	n/a
47	SETDB1	chr13:52874752-52875072	U2OS	brain:	n/a	n/a
48	SPI1	chr13:52871110-52871368	GM12878	blood:	n/a	chr13:52871226-52871239 chr13:52871209-52871222 chr13:52871229-52871236 chr13:52871212-52871219
49	SPI1	chr13:52871117-52871355	K562	blood:	n/a	chr13:52871226-52871239 chr13:52871209-52871222 chr13:52871229-52871236 chr13:52871212-52871219
50	SPI1	chr13:52871102-52871326	K562	blood:	n/a	chr13:52871226-52871239 chr13:52871209-52871222 chr13:52871229-52871236 chr13:52871212-52871219

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52886181-52886231	HCPEpiC	choroid plexus:	n/a
2	chr13:52866820-52866870	SKMC	muscle:	n/a
3	chr13:52886181-52886231	HAEpiC	amniotic membrane:	n/a
4	chr13:52866820-52866870	PrEC	prostate:	n/a
5	chr13:52886181-52886231	Hela-S3	cervix:	n/a
6	chr13:52866820-52866870	NB4	blood:	n/a
7	chr13:52866820-52866870	NT2-D1	testis:	n/a
8	chr13:52886181-52886231	AG10803	skin:	n/a
9	chr13:52866820-52866870	LNCaP	prostate:	n/a
10	chr13:52866820-52866870	U87	brain:	n/a
11	chr13:52866820-52866870	CMK	blood:	n/a
12	chr13:52866820-52866870	Jurkat	blood:	n/a
13	chr13:52886181-52886231	AG09309	skin:	n/a
14	chr13:52866820-52866870	HMEC	breast:	n/a
15	chr13:52866820-52866870	AG10803	skin:	n/a
16	chr13:52886181-52886231	Caco-2	colon:	n/a
17	chr13:52866820-52866870	HIPEpiC	eye:	n/a
18	chr13:52866820-52866870	HAEpiC	amniotic membrane:	n/a
19	chr13:52886181-52886231	HIPEpiC	eye:	n/a
20	chr13:52866820-52866870	AG04449	skin:	fetal
21	chr13:52866820-52866870	MCF-7	breast:	n/a
22	chr13:52866820-52866870	HepG2	liver:	n/a
23	chr13:52866820-52866870	NHDF-neo	bronchial:	n/a
24	chr13:52866820-52866870	Hela-S3	cervix:	n/a
25	chr13:52886181-52886231	RPTEC	kidney:	n/a
26	chr13:52866820-52866870	IMR90	lung:	fetal
27	chr13:52866820-52866870	GM12878	blood:	n/a
28	chr13:52886181-52886231	T-47D	breast:	n/a
29	chr13:52886181-52886231	Jurkat	blood:	n/a
30	chr13:52866820-52866870	Hepatocyte	liver:	n/a
31	chr13:52866820-52866870	GM12891	blood:	n/a
32	chr13:52886181-52886231	HRCEpiC	kidney:	n/a
33	chr13:52886181-52886231	NHDF-neo	bronchial:	n/a
34	chr13:52866820-52866870	NH-A	brain:	n/a
35	chr13:52886181-52886231	A549	lung:	n/a
36	chr13:52886181-52886231	AG04450	lung:	fetal
37	chr13:52866820-52866870	SK-N-SH_RA	brain:	n/a
38	chr13:52866820-52866870	T-47D	breast:	n/a
39	chr13:52866820-52866870	AG09309	skin:	n/a
40	chr13:52886181-52886231	IMR90	lung:	fetal
41	chr13:52866820-52866870	ECC-1	luminal epithelium:	n/a
42	chr13:52886181-52886231	HMEC	breast:	n/a
43	chr13:52886181-52886231	U87	brain:	n/a
44	chr13:52886181-52886231	HepG2	liver:	n/a
45	chr13:52866820-52866870	AG04450	lung:	fetal
46	chr13:52866820-52866870	AoSMC	blood vessel:	n/a
47	chr13:52866820-52866870	AG09319	gingival:	n/a
48	chr13:52886181-52886231	SK-N-SH_RA	brain:	n/a
49	chr13:52886181-52886231	NT2-D1	testis:	n/a
50	chr13:52886181-52886231	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52885798..52888785-chr13:52889900..52891955,2	MCF-7	breast:
2	chr13:52888663..52890246-chr13:52890532..52893511,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-THSD1-4	chr13:52889589-52890110	NONHSAT033983

No data

Variant related genes	Relation type
TPTE2P2	TF binding region
ENSG00000217576	TF binding region
TPTE2P2	CpG island
ENSG00000217576	CpG island

Extended variants
information (count: 358 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181365949	chr13:52866821-52866822	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs57746612	chr13:52866828-52866829	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs570566128	chr13:52867240-52867241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs9535975	chr13:52867241-52867242	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs188778930	chr13:52867271-52867272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs561555975	chr13:52874367-52874368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs9535989	chr13:52874368-52874369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
8	rs550616525	chr13:52874378-52874379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564365268	chr13:52874417-52874418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs185735314	chr13:52874418-52874419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs190050835	chr13:52874448-52874449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566321544	chr13:52874452-52874453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs181258108	chr13:52874453-52874454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs1854119	chr13:52874457-52874458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534484517	chr13:52874683-52874684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367941028	chr13:52874725-52874726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554438644	chr13:52874731-52874732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2476365	chr13:52874736-52874737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs541966692	chr13:52874742-52874743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561787687	chr13:52874744-52874745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575140206	chr13:52874754-52874755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs575896259	chr13:52874762-52874763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544148471	chr13:52874774-52874775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563923655	chr13:52874778-52874779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533097879	chr13:52874840-52874841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs543816629	chr13:52874878-52874879	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370488716	chr13:52874903-52874904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559945526	chr13:52874907-52874908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs529028495	chr13:52874932-52874933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs58863060	chr13:52874951-52874952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs370001468	chr13:52874969-52874970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs564121962	chr13:52874973-52874974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs138354477	chr13:52875006-52875007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569296434	chr13:52875022-52875023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs386771033	chr13:52875028-52875029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs61039156	chr13:52875030-52875031	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
37	rs559847706	chr13:52875046-52875047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs397834337	chr13:52875048-52875049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs397834336	chr13:52875054-52875055	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs571651371	chr13:52875078-52875079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs9535991	chr13:52875092-52875093	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs202246725	chr13:52875112-52875113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs372544104	chr13:52875829-52875830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529054604	chr13:52875852-52875853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542764498	chr13:52875897-52875898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7324358	chr13:52875949-52875950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531863098	chr13:52875976-52875977	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs146522057	chr13:52875977-52875978	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs138849238	chr13:52875989-52875990	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs527660012	chr13:52875992-52875993	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52875800-52876000	Enhancers	HSMMtube	muscle
2	chr13:52875800-52876200	Enhancers	HSMM	muscle
3	chr13:52875800-52876600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:52875800-52877800	Enhancers	Fetal Muscle Leg	muscle
5	chr13:52876200-52877200	Weak transcription	HSMMtube	muscle
6	chr13:52876200-52877400	Weak transcription	HSMM	muscle
7	chr13:52876600-52877400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:52877200-52877800	Enhancers	HSMMtube	muscle
9	chr13:52877400-52877600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:52877400-52877800	Enhancers	HSMM	muscle
11	chr13:52884600-52895400	Weak transcription	K562	blood

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