Variant report

Variant	esv2752515
Chromosome Location	chr13:64552802-64557199
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	FOS	chr13:64553954-64554516	HUVEC	blood vessel:	n/a	chr13:64553991-64554000
2	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
3	GTF2F1	chr13:64554185-64554213	Hela-S3	cervix:	n/a	n/a
4	JUN	chr13:64552636-64552846	H1-hESC	embryonic stem cell:	n/a	chr13:64552775-64552787 chr13:64552832-64552841
5	POLR2A	chr13:64557158-64557396	K562	blood:	n/a	n/a
6	POLR2A	chr13:64553885-64554446	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr13:64556005-64556911	K562	blood:	n/a	n/a
8	POLR2A	chr13:64555275-64555777	K562	blood:	n/a	n/a
9	POLR2A	chr13:64556839-64556957	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr13:64553889-64554161	K562	blood:	n/a	n/a
11	RCOR1	chr13:64556126-64556128	Hela-S3	cervix:	n/a	n/a
12	STAT3	chr13:64555557-64555614	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF7L2	chr13:64553050-64553261	HEK293	kidney:	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:

Variant related genes	Relation type
NFYAP1	TF binding region

Extended variants
information (count: 199 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1572350	chr13:64552802-64552803	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7993407	chr13:64552805-64552806	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7993570	chr13:64552823-64552824	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145531914	chr13:64552825-64552826	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs77176191	chr13:64552880-64552881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559315513	chr13:64552906-64552907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527950008	chr13:64552917-64552918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1414425	chr13:64552919-64552920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570668497	chr13:64552959-64552960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531776422	chr13:64552962-64552963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550006609	chr13:64552976-64552977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536184313	chr13:64553079-64553080	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535981499	chr13:64553102-64553103	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs553848866	chr13:64553120-64553121	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73193319	chr13:64553125-64553126	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs7995525	chr13:64553149-64553150	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558042914	chr13:64553159-64553160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576446740	chr13:64553174-64553175	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558631012	chr13:64553226-64553227	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75075450	chr13:64553260-64553261	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs7995728	chr13:64553284-64553285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192023194	chr13:64553304-64553305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148845301	chr13:64553327-64553328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7994601	chr13:64553341-64553342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs181785211	chr13:64553346-64553347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117170402	chr13:64553362-64553363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575156847	chr13:64553363-64553364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555036836	chr13:64553373-64553374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79795723	chr13:64553385-64553386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564435591	chr13:64553404-64553405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563964231	chr13:64553472-64553473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531908622	chr13:64553522-64553523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549948098	chr13:64553528-64553529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143470764	chr13:64553560-64553561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529344608	chr13:64553581-64553582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185313373	chr13:64553584-64553585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9592309	chr13:64553599-64553600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539811383	chr13:64553600-64553601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9670703	chr13:64553602-64553603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4883727	chr13:64553688-64553689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569948145	chr13:64553705-64553706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9592310	chr13:64553711-64553712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs555571665	chr13:64553719-64553720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189828496	chr13:64553752-64553753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540725412	chr13:64553770-64553771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9317370	chr13:64553782-64553783	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577708188	chr13:64553796-64553797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370785870	chr13:64553919-64553920	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562980444	chr13:64553978-64553979	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113849579	chr13:64554007-64554008	Enhancers	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64552000-64553400	Weak transcription	HUVEC	blood vessel
2	chr13:64553400-64558400	Enhancers	HUVEC	blood vessel
3	chr13:64554000-64554800	Enhancers	HepG2	liver

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