Variant report

Variant	nsv983630
Chromosome Location	chr13:52837032-52883476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr13:52853509-52853730	GM12878	blood:	n/a	chr13:52853641-52853652
2	CBX3	chr13:52874759-52875007	K562	blood:	n/a	n/a
3	CBX3	chr13:52874658-52875125	K562	blood:	n/a	n/a
4	CEBPB	chr13:52864873-52864902	HepG2	liver:	n/a	n/a
5	CEBPD	chr13:52855570-52855946	K562	blood:	n/a	n/a
6	CTCF	chr13:52877275-52877391	MCF-7	breast:	n/a	n/a
7	CTCF	chr13:52869457-52869474	A549	lung:	n/a	n/a
8	CTCF	chr13:52853476-52853565	MCF-7	breast:	n/a	n/a
9	CTCF	chr13:52853471-52853479	MCF-7	breast:	n/a	n/a
10	CTCF	chr13:52877268-52877380	NHEK	skin:	n/a	n/a
11	CTCF	chr13:52853480-52853606	MCF-7	breast:	n/a	n/a
12	CTCF	chr13:52853380-52853530	HMEC	breast:	n/a	n/a
13	CTCF	chr13:52843134-52843162	LNCaP	prostate:	n/a	n/a
14	CTCF	chr13:52867234-52867278	MCF-7	breast:	n/a	n/a
15	CTCF	chr13:52853386-52853514	MCF-7	breast:	n/a	n/a
16	CTCF	chr13:52877232-52877374	MCF-7	breast:	n/a	n/a
17	CTCF	chr13:52860309-52860388	Fibrobl	skin:	n/a	n/a
18	CTCF	chr13:52855331-52855358	ProgFib	skin:	n/a	n/a
19	CTCF	chr13:52853361-52853411	GM12891	blood:	n/a	n/a
20	CTCF	chr13:52862405-52862481	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr13:52877302-52877399	LNCaP	prostate:	n/a	n/a
22	CTCF	chr13:52853493-52853534	GM19239	blood:	n/a	n/a
23	CTCF	chr13:52853020-52853170	BJ	skin:	n/a	n/a
24	CTCF	chr13:52877300-52877339	GM10266	blood:	n/a	n/a
25	CTCF	chr13:52877305-52877327	Fibrobl	skin:	n/a	n/a
26	CTCF	chr13:52877285-52877289	Fibrobl	skin:	n/a	n/a
27	CTCF	chr13:52853326-52853555	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr13:52877285-52877377	MCF-7	breast:	n/a	n/a
29	CTCF	chr13:52882914-52882946	GM10266	blood:	n/a	n/a
30	EBF1	chr13:52876202-52876545	GM12878	blood:	n/a	n/a
31	EBF1	chr13:52876291-52876542	GM12878	blood:	n/a	n/a
32	EP300	chr13:52855570-52855757	K562	blood:	n/a	n/a
33	FOXA2	chr13:52848981-52849698	A549	lung:	n/a	n/a
34	FOXA2	chr13:52849061-52849512	A549	lung:	n/a	n/a
35	GATA1	chr13:52855398-52855839	K562	blood:	n/a	n/a
36	GATA2	chr13:52855486-52855940	K562	blood:	n/a	n/a
37	JUND	chr13:52855710-52855749	K562	blood:	n/a	n/a
38	MYC	chr13:52853515-52853520	MCF-7	breast:	n/a	n/a
39	MYC	chr13:52853411-52853543	MCF-7	breast:	n/a	n/a
40	MYC	chr13:52853544-52853552	MCF-7	breast:	n/a	n/a
41	MYC	chr13:52841099-52841109	GM12878	blood:	n/a	n/a
42	MYC	chr13:52843172-52843178	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr13:52863181-52863214	MCF-7	breast:	n/a	n/a
44	PAX5	chr13:52876282-52876473	GM12878	blood:	n/a	n/a
45	PAX5	chr13:52876310-52876472	GM12878	blood:	n/a	n/a
46	PBX3	chr13:52871393-52871619	GM12878	blood:	n/a	n/a
47	PML	chr13:52855479-52855817	K562	blood:	n/a	n/a
48	POLR2A	chr13:52853290-52853677	A549	lung:	n/a	n/a
49	POLR2A	chr13:52881784-52881802	MCF-7	breast:	n/a	n/a
50	POLR2A	chr13:52841018-52841165	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52866820-52866870	AG04449	skin:	fetal
2	chr13:52866820-52866870	GM06990	blood:	n/a
3	chr13:52866820-52866870	HEEpiC	esophagus:	n/a
4	chr13:52866820-52866870	LNCaP	prostate:	n/a
5	chr13:52866820-52866870	BJ	skin:	n/a
6	chr13:52866820-52866870	GM12878	blood:	n/a
7	chr13:52866820-52866870	HRE	kidney:	n/a
8	chr13:52866820-52866870	HIPEpiC	eye:	n/a
9	chr13:52866820-52866870	Caco-2	colon:	n/a
10	chr13:52866820-52866870	K562	blood:	n/a
11	chr13:52866820-52866870	NHBE	bronchial:	n/a
12	chr13:52866820-52866870	HRPEpiC	eye:	n/a
13	chr13:52866820-52866870	ProgFib	skin:	n/a
14	chr13:52866820-52866870	CMK	blood:	n/a
15	chr13:52866820-52866870	U87	brain:	n/a
16	chr13:52866820-52866870	ECC-1	luminal epithelium:	n/a
17	chr13:52866820-52866870	HCT-116	colon:	n/a
18	chr13:52866820-52866870	Jurkat	blood:	n/a
19	chr13:52866820-52866870	HRCEpiC	kidney:	n/a
20	chr13:52866820-52866870	SK-N-SH	brain:	n/a
21	chr13:52866820-52866870	ovcar-3	ovarian:	n/a
22	chr13:52866820-52866870	T-47D	breast:	n/a
23	chr13:52866820-52866870	NHDF-neo	bronchial:	n/a
24	chr13:52866820-52866870	MCF10A-Er-Src	breast:	n/a
25	chr13:52866820-52866870	Hela-S3	cervix:	n/a
26	chr13:52866820-52866870	PFSK-1	brain:	n/a
27	chr13:52866820-52866870	MCF-7	breast:	n/a
28	chr13:52866820-52866870	SKMC	muscle:	n/a
29	chr13:52866820-52866870	AG09309	skin:	n/a
30	chr13:52866820-52866870	PrEC	prostate:	n/a
31	chr13:52866820-52866870	SK-N-SH_RA	brain:	n/a
32	chr13:52866820-52866870	HMEC	breast:	n/a
33	chr13:52866820-52866870	PANC-1	pancreas:	n/a
34	chr13:52866820-52866870	SK-N-MC	brain:	n/a
35	chr13:52866820-52866870	HCF	heart:	n/a
36	chr13:52866820-52866870	HUVEC	blood vessel:	n/a
37	chr13:52866820-52866870	HCPEpiC	choroid plexus:	n/a
38	chr13:52866820-52866870	AoSMC	blood vessel:	n/a
39	chr13:52866820-52866870	BE2_C	brain:	n/a
40	chr13:52866820-52866870	GM19239	blood:	n/a
41	chr13:52866820-52866870	H1-hESC	embryonic stem cell:	embryo
42	chr13:52866820-52866870	HCM	heart:	n/a
43	chr13:52866820-52866870	HAEpiC	amniotic membrane:	n/a
44	chr13:52866820-52866870	HL-60	blood:	n/a
45	chr13:52866820-52866870	AG10803	skin:	n/a
46	chr13:52866820-52866870	AG04450	lung:	fetal
47	chr13:52866820-52866870	NT2-D1	testis:	n/a
48	chr13:52866820-52866870	HEK293	kidney:	embryo
49	chr13:52866820-52866870	SAEC	small airway:	n/a
50	chr13:52866820-52866870	NH-A	brain:	n/a

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: 135 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553111164	chr13:52849270-52849271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs56680116	chr13:52849316-52849317	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9535955	chr13:52849351-52849352	Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs565839587	chr13:52849368-52849369	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374133198	chr13:52849372-52849373	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs574377526	chr13:52849470-52849471	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs543377934	chr13:52849479-52849480	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563449938	chr13:52849480-52849481	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs137865499	chr13:52849491-52849492	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140827632	chr13:52849495-52849496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559631816	chr13:52849527-52849528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs528282651	chr13:52849531-52849532	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548731357	chr13:52849542-52849543	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs61957341	chr13:52849657-52849658	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs562192420	chr13:52849719-52849720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs530836251	chr13:52849735-52849736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188264355	chr13:52849742-52849743	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539697931	chr13:52849751-52849752	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs367681066	chr13:52849753-52849754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546886713	chr13:52849758-52849759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192803695	chr13:52849760-52849761	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535638291	chr13:52849771-52849772	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554388182	chr13:52849780-52849781	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538344197	chr13:52849792-52849793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs574439942	chr13:52849819-52849820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183251878	chr13:52849843-52849844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556868614	chr13:52849929-52849930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs376270002	chr13:52849965-52849966	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576903485	chr13:52849986-52849987	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181365949	chr13:52866821-52866822	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs57746612	chr13:52866828-52866829	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs570566128	chr13:52867240-52867241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs9535975	chr13:52867241-52867242	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs188778930	chr13:52867271-52867272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs561555975	chr13:52874367-52874368	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs9535989	chr13:52874368-52874369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
37	rs550616525	chr13:52874378-52874379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs564365268	chr13:52874417-52874418	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs185735314	chr13:52874418-52874419	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs190050835	chr13:52874448-52874449	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566321544	chr13:52874452-52874453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs181258108	chr13:52874453-52874454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs1854119	chr13:52874457-52874458	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534484517	chr13:52874683-52874684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs367941028	chr13:52874725-52874726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs554438644	chr13:52874731-52874732	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs2476365	chr13:52874736-52874737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs541966692	chr13:52874742-52874743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs561787687	chr13:52874744-52874745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575140206	chr13:52874754-52874755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52849200-52849600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:52849200-52849600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:52849200-52849600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:52849200-52849600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:52849200-52849800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr13:52849200-52850000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr13:52849200-52850000	Active TSS	H1 Cell Line	embryonic stem cell
8	chr13:52849200-52850000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr13:52849200-52850000	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr13:52849200-52850000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr13:52849200-52850000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr13:52849200-52850000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr13:52875800-52876000	Enhancers	HSMMtube	muscle
14	chr13:52875800-52876200	Enhancers	HSMM	muscle
15	chr13:52875800-52876600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:52875800-52877800	Enhancers	Fetal Muscle Leg	muscle
17	chr13:52876200-52877200	Weak transcription	HSMMtube	muscle
18	chr13:52876200-52877400	Weak transcription	HSMM	muscle
19	chr13:52876600-52877400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:52877200-52877800	Enhancers	HSMMtube	muscle
21	chr13:52877400-52877600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:52877400-52877800	Enhancers	HSMM	muscle

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