Variant report

Variant	esv2753791
Chromosome Location	chr13:64550160-64563532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr13:64562560-64562797	HepG2	liver:	n/a	chr13:64562678-64562689 chr13:64562678-64562691
2	CEBPB	chr13:64550954-64551166	K562	blood:	n/a	chr13:64551014-64551025 chr13:64551013-64551026
3	CEBPB	chr13:64550843-64551208	HepG2	liver:	n/a	chr13:64551014-64551025 chr13:64551013-64551026
4	CTCF	chr13:64558963-64558971	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr13:64550580-64550730	GM12865	blood:	n/a	n/a
6	CTCF	chr13:64558980-64559001	Kidney_OC	kidney:	n/a	n/a
7	EP300	chr13:64562694-64562735	GM12878	blood:	n/a	n/a
8	FOS	chr13:64553954-64554516	HUVEC	blood vessel:	n/a	chr13:64553991-64554000
9	FOS	chr13:64551622-64551938	HUVEC	blood vessel:	n/a	chr13:64551793-64551804
10	FOS	chr13:64551719-64551825	MCF10A-Er-Src	breast:	n/a	chr13:64551793-64551804
11	FOS	chr13:64557551-64557875	HUVEC	blood vessel:	n/a	n/a
12	GATA2	chr13:64557394-64558006	HUVEC	blood vessel:	n/a	n/a
13	GATA2	chr13:64553867-64554580	HUVEC	blood vessel:	n/a	chr13:64554286-64554300 chr13:64554289-64554296 chr13:64554284-64554300 chr13:64554289-64554299 chr13:64554287-64554296 chr13:64553998-64554008 chr13:64554287-64554297 chr13:64554286-64554298
14	GTF2F1	chr13:64554185-64554213	Hela-S3	cervix:	n/a	n/a
15	JUN	chr13:64552636-64552846	H1-hESC	embryonic stem cell:	n/a	chr13:64552775-64552787 chr13:64552832-64552841
16	MAFK	chr13:64551332-64551525	HepG2	liver:	n/a	n/a
17	PAX5	chr13:64561471-64561684	GM12878	blood:	n/a	chr13:64561574-64561592 chr13:64561583-64561592 chr13:64561576-64561593
18	PAX5	chr13:64561481-64561652	GM12878	blood:	n/a	chr13:64561574-64561592 chr13:64561583-64561592 chr13:64561576-64561593
19	POLR2A	chr13:64553889-64554161	K562	blood:	n/a	n/a
20	POLR2A	chr13:64559683-64560853	K562	blood:	n/a	n/a
21	POLR2A	chr13:64557158-64557396	K562	blood:	n/a	n/a
22	POLR2A	chr13:64559230-64559458	K562	blood:	n/a	n/a
23	POLR2A	chr13:64556839-64556957	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr13:64553885-64554446	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr13:64555275-64555777	K562	blood:	n/a	n/a
26	POLR2A	chr13:64550073-64550165	Gliobla	brain:	n/a	n/a
27	POLR2A	chr13:64558149-64558771	K562	blood:	n/a	n/a
28	POLR2A	chr13:64556005-64556911	K562	blood:	n/a	n/a
29	RCOR1	chr13:64556126-64556128	Hela-S3	cervix:	n/a	n/a
30	STAT3	chr13:64555557-64555614	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr13:64560300-64560442	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr13:64557520-64557893	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr13:64551839-64551870	MCF10A-Er-Src	breast:	n/a	n/a
34	TCF7L2	chr13:64553050-64553261	HEK293	kidney:	n/a	n/a
35	USF2	chr13:64550425-64550556	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:64553735..64556887-chr13:64557043..64560591,3	K562	blood:
2	chr13:64553735..64556887-chr13:64557043..64560591,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH9-13	chr13:64549584-64550555	NONHSAT034188

Variant related genes	Relation type
NFYAP1	TF binding region

Extended variants
information (count: 363 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:363 , 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	rs41382744	chr13:64550160-64550161	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182498582	chr13:64550175-64550176	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs561360476	chr13:64550227-64550228	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs552403999	chr13:64550289-64550290	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs528627425	chr13:64550291-64550292	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs556836790	chr13:64550295-64550296	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs546953120	chr13:64550300-64550301	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs188835719	chr13:64550330-64550331	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs565170837	chr13:64550332-64550333	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs532402196	chr13:64550375-64550376	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs112204869	chr13:64550396-64550397	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs192882766	chr13:64550466-64550467	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs185817765	chr13:64550468-64550469	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs537307977	chr13:64550502-64550503	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs537697338	chr13:64550528-64550529	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs548027811	chr13:64550548-64550549	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs566208398	chr13:64550549-64550550	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs533683943	chr13:64550617-64550618	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558490906	chr13:64550621-64550622	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs188687354	chr13:64550624-64550625	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs539272452	chr13:64550638-64550639	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs557695400	chr13:64550652-64550653	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs12427853	chr13:64550661-64550662	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs576050277	chr13:64550663-64550664	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576598619	chr13:64550671-64550672	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545520988	chr13:64550672-64550673	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs139204060	chr13:64550678-64550679	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs555232669	chr13:64550697-64550698	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs193225113	chr13:64550701-64550702	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs540386951	chr13:64550711-64550712	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs7981426	chr13:64550775-64550776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541456761	chr13:64550787-64550788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532406557	chr13:64550846-64550847	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs544239333	chr13:64550873-64550874	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114642477	chr13:64550924-64550925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542875970	chr13:64550926-64550927	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs371669182	chr13:64550937-64550938	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs386771745	chr13:64550938-64550939	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs374580761	chr13:64550939-64550940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs199821229	chr13:64550940-64550941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs58350591	chr13:64550941-64550942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200492875	chr13:64550942-64550943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs80294133	chr13:64550949-64550950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs74322416	chr13:64550950-64550951	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370974049	chr13:64550951-64550952	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs77833297	chr13:64550952-64550953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143225175	chr13:64550954-64550955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs111895126	chr13:64551012-64551013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs377685432	chr13:64551034-64551035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs566343161	chr13:64551035-64551036	Inactive region	TF binding 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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64550000-64550800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:64551800-64552000	Enhancers	HUVEC	blood vessel
3	chr13:64552000-64553400	Weak transcription	HUVEC	blood vessel
4	chr13:64553400-64558400	Enhancers	HUVEC	blood vessel
5	chr13:64554000-64554800	Enhancers	HepG2	liver

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