Variant report

Variant	esv2761790
Chromosome Location	chr13:53071152-53145658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:400)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:400 , 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	ARID3A	chr13:53088187-53088371	K562	blood:	n/a	n/a
2	ARID3A	chr13:53144165-53144251	HepG2	liver:	n/a	n/a
3	ATF1	chr13:53088164-53088389	K562	blood:	n/a	n/a
4	ATF3	chr13:53088183-53088428	K562	blood:	n/a	n/a
5	BACH1	chr13:53088181-53088381	K562	blood:	n/a	n/a
6	BATF	chr13:53144126-53144351	GM12878	blood:	n/a	n/a
7	BATF	chr13:53072412-53072681	GM12878	blood:	n/a	n/a
8	BATF	chr13:53145320-53145576	GM12878	blood:	n/a	n/a
9	BATF	chr13:53107072-53107288	GM12878	blood:	n/a	chr13:53107179-53107190
10	BATF	chr13:53072199-53072653	GM12878	blood:	n/a	n/a
11	BCL11A	chr13:53072127-53072440	GM12878	blood:	n/a	n/a
12	BCL11A	chr13:53072215-53072448	GM12878	blood:	n/a	n/a
13	CBX3	chr13:53076485-53076758	K562	blood:	n/a	n/a
14	CBX3	chr13:53085675-53086163	K562	blood:	n/a	n/a
15	CBX3	chr13:53088024-53088495	K562	blood:	n/a	n/a
16	CBX3	chr13:53076379-53076775	K562	blood:	n/a	n/a
17	CBX3	chr13:53085710-53086139	K562	blood:	n/a	n/a
18	CEBPB	chr13:53119983-53120013	HepG2	liver:	n/a	chr13:53119996-53120007
19	CEBPB	chr13:53088167-53088381	K562	blood:	n/a	n/a
20	CEBPB	chr13:53088130-53088469	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr13:53119866-53120129	K562	blood:	n/a	chr13:53119996-53120007
22	CEBPB	chr13:53088061-53088464	K562	blood:	n/a	n/a
23	CEBPB	chr13:53119888-53120084	K562	blood:	n/a	chr13:53119996-53120007
24	CEBPD	chr13:53104952-53105252	K562	blood:	n/a	n/a
25	CHD2	chr13:53088297-53088367	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr13:53144080-53144230	GM12875	blood:	n/a	n/a
27	CTCF	chr13:53144151-53144348	GM20000	blood:	n/a	n/a
28	CTCF	chr13:53144080-53144230	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr13:53144120-53144270	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr13:53083571-53083640	MCF-7	breast:	n/a	n/a
31	CTCF	chr13:53144120-53144270	GM12870	blood:	n/a	n/a
32	CTCF	chr13:53144140-53144290	RPTEC	kidney:	n/a	n/a
33	CTCF	chr13:53144110-53144374	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr13:53144097-53144341	A549	lung:	n/a	n/a
35	CTCF	chr13:53144020-53144170	A549	lung:	n/a	n/a
36	CTCF	chr13:53144090-53144374	K562	blood:	n/a	n/a
37	CTCF	chr13:53144100-53144250	AG10803	skin:	n/a	n/a
38	CTCF	chr13:53144105-53144351	LNCaP	prostate:	n/a	n/a
39	CTCF	chr13:53144100-53144250	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr13:53144512-53144653	MCF-7	breast:	n/a	n/a
41	CTCF	chr13:53144100-53144250	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr13:53143840-53143990	AG09319	gingival:	n/a	n/a
43	CTCF	chr13:53144120-53144270	WI-38	lung:	n/a	n/a
44	CTCF	chr13:53117970-53118056	MCF-7	breast:	n/a	chr13:53118025-53118043 chr13:53118027-53118048
45	CTCF	chr13:53144100-53144250	SAEC	small airway:	n/a	n/a
46	CTCF	chr13:53144140-53144290	HVMF	connective:	n/a	n/a
47	CTCF	chr13:53144110-53144405	GM12892	blood:	n/a	n/a
48	CTCF	chr13:53074423-53074462	LNCaP	prostate:	n/a	n/a
49	CTCF	chr13:53092847-53092944	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr13:53107353-53107445	GM12891	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CKAP2-1	chr13:53071697-53071809	ENSG00000244471.1
2	lnc-CKAP2-1	chr13:53073178-53073279	ENSG00000244471.1
3	lnc-CKAP2-1	chr13:53073178-53073440	ENSG00000244471.1

No data

Variant related genes	Relation type
TPTE2P3	TF binding region

Extended variants
information (count: 234 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563067229	chr13:53071721-53071722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs532045118	chr13:53071724-53071725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191382309	chr13:53071731-53071732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs547640871	chr13:53071738-53071739	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs369004900	chr13:53071739-53071740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs4884622	chr13:53071743-53071744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs559256060	chr13:53071767-53071768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528416681	chr13:53071773-53071774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs146268419	chr13:53071782-53071783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs370465257	chr13:53071784-53071785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs558990344	chr13:53071800-53071801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs550760111	chr13:53072019-53072020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74087318	chr13:53072109-53072110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566120050	chr13:53072122-53072123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567466069	chr13:53072133-53072134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539872150	chr13:53072158-53072159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546722240	chr13:53072206-53072207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566851472	chr13:53072223-53072224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373433495	chr13:53072261-53072262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377646688	chr13:53072268-53072269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535809936	chr13:53072274-53072275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79312495	chr13:53072281-53072282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575505722	chr13:53072351-53072352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538066040	chr13:53072352-53072353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557890429	chr13:53072546-53072547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368577347	chr13:53072582-53072583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545873707	chr13:53072703-53072704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559119678	chr13:53072709-53072710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572774345	chr13:53072869-53072870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181891576	chr13:53072913-53072914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377170236	chr13:53072928-53072929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561976418	chr13:53072930-53072931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74087321	chr13:53072995-53072996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148579626	chr13:53073001-53073002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73486186	chr13:53073014-53073015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533308230	chr13:53073031-53073032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112234332	chr13:53073049-53073050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555132284	chr13:53073083-53073084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566782465	chr13:53073191-53073192	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs574901388	chr13:53073237-53073238	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs367809188	chr13:53073266-53073267	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs548932209	chr13:53073287-53073288	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs569219712	chr13:53073289-53073290	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4884627	chr13:53073306-53073307	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs4884628	chr13:53073311-53073312	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs185995930	chr13:53073345-53073346	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs557976755	chr13:53073350-53073351	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191163845	chr13:53073360-53073361	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs369966767	chr13:53073411-53073412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs553053154	chr13:53073413-53073414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53072000-53073400	Enhancers	Dnd41	blood
2	chr13:53083000-53083400	Enhancers	HSMM	muscle
3	chr13:53083200-53083400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:53083200-53083800	Enhancers	HSMMtube	muscle
5	chr13:53083400-53084400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:53083400-53084800	Weak transcription	HSMM	muscle
7	chr13:53083800-53084200	Weak transcription	HSMMtube	muscle
8	chr13:53084200-53084600	Enhancers	HSMMtube	muscle
9	chr13:53084400-53085000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:53084400-53085000	Enhancers	Fetal Muscle Trunk	muscle
11	chr13:53084400-53085000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr13:53084800-53085200	Enhancers	Fetal Muscle Leg	muscle
13	chr13:53084800-53085400	Enhancers	HSMM	muscle
14	chr13:53085000-53088200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:53088200-53088600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:53144200-53144400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:53144200-53144600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr13:53144400-53144600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:53144400-53144600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:53144400-53144600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:53144400-53144600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:53144400-53144600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:53144400-53144600	Enhancers	Fetal Muscle Trunk	muscle

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