Variant report

Variant	esv3415162
Chromosome Location	chr13:62316000-62342581
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	chr13:62342409-62342744	HepG2	liver:	n/a	chr13:62342569-62342580
2	CEBPB	chr13:62317118-62317406	IMR90	lung:	n/a	n/a
3	CEBPB	chr13:62342495-62342652	A549	lung:	n/a	chr13:62342569-62342580
4	CEBPB	chr13:62317223-62317406	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr13:62319892-62319915	GM10266	blood:	n/a	n/a
6	CTCF	chr13:62322134-62322167	Lung_OC	lung:	n/a	n/a
7	E2F4	chr13:62320703-62320810	MCF10A-Er-Src	breast:	n/a	n/a
8	KAP1	chr13:62329579-62330827	HEK293	kidney:	n/a	n/a
9	KAP1	chr13:62339892-62340296	HEK293	kidney:	n/a	n/a
10	KAP1	chr13:62329683-62331338	U2OS	brain:	n/a	n/a
11	MAFF	chr13:62335843-62336197	HepG2	liver:	n/a	chr13:62336001-62336019
12	MAFF	chr13:62341160-62341313	HepG2	liver:	n/a	n/a
13	MAFK	chr13:62335865-62336193	IMR90	lung:	n/a	chr13:62336003-62336018
14	MAFK	chr13:62336539-62336737	HepG2	liver:	n/a	chr13:62336608-62336619 chr13:62336606-62336620 chr13:62336608-62336628 chr13:62336607-62336618 chr13:62336607-62336618 chr13:62336611-62336625 chr13:62336610-62336626 chr13:62336607-62336623 chr13:62336608-62336619
15	MAFK	chr13:62335856-62336070	K562	blood:	n/a	chr13:62336003-62336018
16	MAFK	chr13:62335854-62336195	HepG2	liver:	n/a	chr13:62336003-62336018
17	MAFK	chr13:62335876-62336171	HepG2	liver:	n/a	chr13:62336003-62336018
18	MAFK	chr13:62341206-62341368	HepG2	liver:	n/a	n/a
19	MAX	chr13:62334077-62334114	NB4	blood:	n/a	chr13:62334086-62334096
20	MAZ	chr13:62327953-62328023	HepG2	liver:	n/a	n/a
21	MYC	chr13:62334061-62334203	MCF10A-Er-Src	breast:	n/a	chr13:62334086-62334096
22	NFYB	chr13:62320230-62320365	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr13:62341728-62341847	MCF10A-Er-Src	breast:	n/a	n/a
24	SETDB1	chr13:62341931-62342873	U2OS	brain:	n/a	n/a
25	SETDB1	chr13:62329639-62330873	U2OS	brain:	n/a	n/a
26	SPI1	chr13:62330797-62331168	HL-60	blood:	n/a	n/a
27	STAT3	chr13:62334422-62334540	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr13:62341589-62341900	MCF10A-Er-Src	breast:	n/a	chr13:62341716-62341724
29	STAT3	chr13:62316566-62316889	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr13:62326537-62326691	MCF10A-Er-Src	breast:	n/a	chr13:62326580-62326589
31	TBL1XR1	chr13:62316123-62316128	GM12878	blood:	n/a	n/a
32	ZNF143	chr13:62339735-62339795	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000212007	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532976317	chr13:62334519-62334520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs368746863	chr13:62334522-62334523	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7992500	chr13:62335946-62335947	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530131081	chr13:62335977-62335978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548301434	chr13:62335992-62335993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566705147	chr13:62335998-62335999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144984812	chr13:62336001-62336002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs552757334	chr13:62336026-62336027	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77906291	chr13:62336078-62336079	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs538541843	chr13:62336082-62336083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533361966	chr13:62336142-62336143	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs561876711	chr13:62336157-62336158	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555879974	chr13:62336175-62336176	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574534209	chr13:62336176-62336177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs4886371	chr13:62336189-62336190	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553944254	chr13:62336194-62336195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs182553832	chr13:62336583-62336584	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs548190562	chr13:62336641-62336642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs76588352	chr13:62336643-62336644	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs77895831	chr13:62336644-62336645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574201296	chr13:62339669-62339670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182531776	chr13:62339683-62339684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187270476	chr13:62339695-62339696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557981821	chr13:62339711-62339712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139524039	chr13:62339751-62339752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34580180	chr13:62339752-62339753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs143545914	chr13:62339774-62339775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77393645	chr13:62339787-62339788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548587845	chr13:62339811-62339812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34765054	chr13:62339821-62339822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117666148	chr13:62339823-62339824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540288908	chr13:62339854-62339855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77593910	chr13:62339918-62339919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546734678	chr13:62339929-62339930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189737198	chr13:62339946-62339947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532412485	chr13:62339964-62339965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143966369	chr13:62339971-62339972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117887986	chr13:62340002-62340003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113429246	chr13:62340037-62340038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537414834	chr13:62340046-62340047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114072814	chr13:62340051-62340052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567718881	chr13:62340098-62340099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57235354	chr13:62340109-62340110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376353160	chr13:62340110-62340111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573553275	chr13:62340117-62340118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578132620	chr13:62340120-62340121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148607199	chr13:62340121-62340122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551965650	chr13:62340139-62340140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114663842	chr13:62340150-62340151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7994543	chr13:62340156-62340157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

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
small cell lung cancer	20016488	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
Lung cancer	18438408	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
Myelofibrosis	22110671	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:62339600-62344800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:62340600-62341200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:62340600-62341200	Active TSS	Spleen	Spleen

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