Variant report

Variant	esv2754533
Chromosome Location	chr13:64641096-64655359
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:262)
CpG islands
(count:245)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:64648424-64648624	K562	blood:	n/a	n/a
2	ARID3A	chr13:64647343-64648012	K562	blood:	n/a	n/a
3	ARID3A	chr13:64649942-64650348	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:64649045-64649723	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:64647471-64647547	HepG2	liver:	n/a	n/a
6	ATF1	chr13:64649727-64650392	K562	blood:	n/a	n/a
7	ATF3	chr13:64650004-64650247	K562	blood:	n/a	n/a
8	ATF3	chr13:64649966-64650442	HepG2	liver:	n/a	n/a
9	ATF3	chr13:64649957-64650249	HepG2	liver:	n/a	n/a
10	BHLHE40	chr13:64649695-64650426	K562	blood:	n/a	n/a
11	BHLHE40	chr13:64649668-64650427	HepG2	liver:	n/a	n/a
12	BRCA1	chr13:64650041-64650270	HepG2	liver:	n/a	n/a
13	CBX3	chr13:64649553-64650322	K562	blood:	n/a	n/a
14	CCNT2	chr13:64649960-64650241	K562	blood:	n/a	n/a
15	CEBPB	chr13:64645538-64645794	HepG2	liver:	n/a	n/a
16	CEBPB	chr13:64645645-64645840	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr13:64645492-64645866	K562	blood:	n/a	n/a
18	CEBPB	chr13:64646320-64646576	A549	lung:	n/a	chr13:64646454-64646467 chr13:64646455-64646466
19	CEBPB	chr13:64646287-64646619	HepG2	liver:	n/a	chr13:64646454-64646467 chr13:64646455-64646466
20	CEBPB	chr13:64646318-64646667	K562	blood:	n/a	chr13:64646454-64646467 chr13:64646617-64646630 chr13:64646455-64646466
21	CHD2	chr13:64652263-64652599	HepG2	liver:	n/a	n/a
22	CHD2	chr13:64649204-64649244	GM12878	blood:	n/a	n/a
23	CHD2	chr13:64649881-64650338	GM12878	blood:	n/a	n/a
24	CHD2	chr13:64649689-64650297	HepG2	liver:	n/a	n/a
25	CHD2	chr13:64649076-64649336	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr13:64650000-64650366	K562	blood:	n/a	n/a
27	CHD2	chr13:64649566-64650350	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr13:64649133-64649288	HepG2	liver:	n/a	n/a
29	CHD2	chr13:64652827-64652843	HepG2	liver:	n/a	n/a
30	CREB1	chr13:64649665-64650493	HepG2	liver:	n/a	n/a
31	CREB1	chr13:64649621-64650500	K562	blood:	n/a	n/a
32	CREB1	chr13:64649458-64650486	HepG2	liver:	n/a	n/a
33	CREB1	chr13:64649884-64650402	K562	blood:	n/a	n/a
34	CTCF	chr13:64650143-64650441	K562	blood:	n/a	n/a
35	CUX1	chr13:64649868-64650195	K562	blood:	n/a	n/a
36	CUX1	chr13:64646741-64646919	K562	blood:	n/a	n/a
37	E2F4	chr13:64646809-64647002	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr13:64643272-64643389	GM12878	blood:	n/a	n/a
39	EBF1	chr13:64649270-64649419	GM12878	blood:	n/a	n/a
40	ELF1	chr13:64649729-64650329	HepG2	liver:	n/a	n/a
41	ELF1	chr13:64649704-64650321	K562	blood:	n/a	n/a
42	ELF1	chr13:64649741-64650128	GM12878	blood:	n/a	n/a
43	ELF1	chr13:64649761-64650320	K562	blood:	n/a	n/a
44	ELF1	chr13:64649705-64650377	HepG2	liver:	n/a	n/a
45	ELF1	chr13:64652105-64652477	HepG2	liver:	n/a	n/a
46	EP300	chr13:64647315-64647552	K562	blood:	n/a	n/a
47	EP300	chr13:64649749-64650434	K562	blood:	n/a	n/a
48	EP300	chr13:64649895-64650303	GM12878	blood:	n/a	n/a
49	FOXA1	chr13:64650040-64650316	T-47D	breast:	n/a	n/a
50	FOXA1	chr13:64643956-64644447	HepG2	liver:	n/a	chr13:64644231-64644246

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:64651269-64651319	HCPEpiC	choroid plexus:	n/a
2	chr13:64651269-64651319	HCPEpiC	choroid plexus:	n/a
3	chr13:64650183-64650233	HEK293	kidney:	embryo
4	chr13:64650188-64650238	BE2_C	brain:	n/a
5	chr13:64650215-64650265	HCT-116	colon:	n/a
6	chr13:64650188-64650238	GM12892	blood:	n/a
7	chr13:64650183-64650233	GM06990	blood:	n/a
8	chr13:64650215-64650265	SKMC	muscle:	n/a
9	chr13:64651269-64651319	H1-hESC	embryonic stem cell:	embryo
10	chr13:64650183-64650233	NB4	blood:	n/a
11	chr13:64650183-64650233	ProgFib	skin:	n/a
12	chr13:64650215-64650265	NB4	blood:	n/a
13	chr13:64651269-64651319	MCF10A-Er-Src	breast:	n/a
14	chr13:64650188-64650238	GM12878	blood:	n/a
15	chr13:64651269-64651319	HRPEpiC	eye:	n/a
16	chr13:64650215-64650265	NHBE	bronchial:	n/a
17	chr13:64650215-64650265	AG10803	skin:	n/a
18	chr13:64651269-64651319	NHBE	bronchial:	n/a
19	chr13:64651269-64651319	HEK293	kidney:	embryo
20	chr13:64650215-64650265	AoSMC	blood vessel:	n/a
21	chr13:64650215-64650265	HUVEC	blood vessel:	n/a
22	chr13:64650183-64650233	HEEpiC	esophagus:	n/a
23	chr13:64650215-64650265	SK-N-SH	brain:	n/a
24	chr13:64650183-64650233	AG09319	gingival:	n/a
25	chr13:64650215-64650265	SK-N-SH_RA	brain:	n/a
26	chr13:64650188-64650238	HRE	kidney:	n/a
27	chr13:64650183-64650233	NT2-D1	testis:	n/a
28	chr13:64651269-64651319	ECC-1	luminal epithelium:	n/a
29	chr13:64650188-64650238	ovcar-3	ovarian:	n/a
30	chr13:64650215-64650265	BE2_C	brain:	n/a
31	chr13:64651269-64651319	SK-N-SH	brain:	n/a
32	chr13:64650188-64650238	HRPEpiC	eye:	n/a
33	chr13:64650183-64650233	U87	brain:	n/a
34	chr13:64651269-64651319	ovcar-3	ovarian:	n/a
35	chr13:64651269-64651319	GM19239	blood:	n/a
36	chr13:64650183-64650233	SK-N-MC	brain:	n/a
37	chr13:64651269-64651319	BJ	skin:	n/a
38	chr13:64651269-64651319	LNCaP	prostate:	n/a
39	chr13:64650183-64650233	HCM	heart:	n/a
40	chr13:64651269-64651319	AG09319	gingival:	n/a
41	chr13:64650215-64650265	HMEC	breast:	n/a
42	chr13:64650183-64650233	ovcar-3	ovarian:	n/a
43	chr13:64650215-64650265	BJ	skin:	n/a
44	chr13:64650215-64650265	GM12878	blood:	n/a
45	chr13:64650188-64650238	SAEC	small airway:	n/a
46	chr13:64651269-64651319	AG04449	skin:	fetal
47	chr13:64650183-64650233	HRPEpiC	eye:	n/a
48	chr13:64650183-64650233	AG09309	skin:	n/a
49	chr13:64650188-64650238	U87	brain:	n/a
50	chr13:64651269-64651319	HCM	heart:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:64645390..64648132-chr13:64648675..64650217,2	K562	blood:
2	chr13:64629925..64632065-chr13:64645172..64647089,2	K562	blood:
3	chr13:64651720..64653220-chr20:35806448..35807989,2	K562	blood:
4	chr13:64650229..64650817-chr15:52311651..52312545,2	Hela-S3	cervix:
5	chr13:64637404..64639561-chr13:64642021..64643825,2	K562	blood:
6	chr13:64642973..64645650-chr13:64650232..64651765,2	K562	blood:
7	chr13:64642973..64645650-chr13:64650232..64651765,2	K562	blood:
8	chr13:64642482..64644473-chr13:64648903..64651732,2	K562	blood:
9	chr13:64652193..64655150-chr13:64666356..64668232,2	K562	blood:

No data

Variant related genes	Relation type
LINC00355	TF binding region
LINC00355	CpG island
ENSG00000227674	chromatin interactions
ENSG00000069956	chromatin interactions
ENSG00000101353	chromatin interactions
ENSG00000118705	chromatin interactions

Extended variants
information (count: 533 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17081663	chr13:64641096-64641097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558645987	chr13:64641107-64641108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77513925	chr13:64641153-64641154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184841949	chr13:64641155-64641156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs269619	chr13:64641238-64641239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574441418	chr13:64641250-64641251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541580058	chr13:64641255-64641256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189290538	chr13:64641310-64641311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180995346	chr13:64641316-64641317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115235846	chr13:64641324-64641325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564052326	chr13:64641358-64641359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs269620	chr13:64641432-64641433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs147969763	chr13:64641451-64641452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569567055	chr13:64641460-64641461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536948344	chr13:64641735-64641736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184174508	chr13:64641736-64641737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189892884	chr13:64641778-64641779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35619122	chr13:64641810-64641811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150200017	chr13:64641811-64641812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs269621	chr13:64641844-64641845	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550680577	chr13:64641900-64641901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9598709	chr13:64641922-64641923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78495057	chr13:64641931-64641932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537194709	chr13:64641932-64641933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556288637	chr13:64641945-64641946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557037883	chr13:64641960-64641961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141849295	chr13:64642010-64642011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17081669	chr13:64642029-64642030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559890407	chr13:64642055-64642056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552920943	chr13:64642061-64642062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573083836	chr13:64642112-64642113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545710811	chr13:64642120-64642121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199744034	chr13:64642141-64642142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17081671	chr13:64642152-64642153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181100729	chr13:64642215-64642216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549701725	chr13:64642251-64642252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115364000	chr13:64642281-64642282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561776865	chr13:64642300-64642301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186050763	chr13:64642301-64642302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548921290	chr13:64642319-64642320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs269622	chr13:64642382-64642383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534394105	chr13:64642399-64642400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575395519	chr13:64642425-64642426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374778398	chr13:64642449-64642450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544377568	chr13:64642497-64642498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370592393	chr13:64642513-64642514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs190468242	chr13:64642516-64642517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1508924	chr13:64642528-64642529	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181966299	chr13:64642550-64642551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574511301	chr13:64642605-64642606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64632000-64646200	Weak transcription	HepG2	liver
2	chr13:64640600-64642200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr13:64640800-64642000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:64641200-64641600	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:64644800-64645200	Enhancers	K562	blood
6	chr13:64645200-64645400	Weak transcription	K562	blood
7	chr13:64645400-64645800	Enhancers	K562	blood
8	chr13:64645800-64646200	Weak transcription	K562	blood
9	chr13:64646200-64647400	Enhancers	HepG2	liver
10	chr13:64646200-64651400	Active TSS	K562	blood
11	chr13:64647400-64649000	Active TSS	HepG2	liver
12	chr13:64648200-64654200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr13:64648600-64651600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:64649000-64650200	Bivalent/Poised TSS	HepG2	liver
15	chr13:64649000-64650600	Active TSS	Hela-S3	cervix
16	chr13:64649200-64650200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:64650200-64650600	Active TSS	HepG2	liver
18	chr13:64650200-64652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:64650600-64651000	Flanking Active TSS	HepG2	liver
20	chr13:64650800-64651800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr13:64651000-64653400	Active TSS	HepG2	liver
22	chr13:64652600-64653200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:64654200-64654400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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