Variant report

Variant	esv3441026
Chromosome Location	chr13:89634000-89658202
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	BHLHE40	chr13:89643606-89643700	GM12878	blood:	n/a	n/a
2	CHD2	chr13:89633926-89634048	HepG2	liver:	n/a	n/a
3	CTCF	chr13:89643087-89643175	Lung_OC	lung:	n/a	n/a
4	E2F4	chr13:89656333-89656434	MCF10A-Er-Src	breast:	n/a	n/a
5	EBF1	chr13:89645893-89645897	GM12878	blood:	n/a	n/a
6	EBF1	chr13:89649222-89649401	GM12878	blood:	n/a	n/a
7	FAM48A	chr13:89637190-89637325	GM12878	blood:	n/a	n/a
8	GATA3	chr13:89650613-89650904	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr13:89634315-89634482	SH-SY5Y	brain:	n/a	n/a
10	JUN	chr13:89649031-89649055	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUN	chr13:89655895-89655897	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFF	chr13:89645871-89645979	HepG2	liver:	n/a	n/a
13	MAFF	chr13:89638076-89638578	HepG2	liver:	n/a	chr13:89638402-89638420
14	MAFK	chr13:89650603-89650897	HepG2	liver:	n/a	n/a
15	MAFK	chr13:89645817-89646066	IMR90	lung:	n/a	n/a
16	MAFK	chr13:89638250-89638552	IMR90	lung:	n/a	chr13:89638403-89638418
17	MAFK	chr13:89650621-89650824	IMR90	lung:	n/a	n/a
18	MAFK	chr13:89645868-89646025	HepG2	liver:	n/a	n/a
19	MAFK	chr13:89645856-89645955	HepG2	liver:	n/a	n/a
20	MAFK	chr13:89638277-89638518	HepG2	liver:	n/a	chr13:89638403-89638418
21	MAFK	chr13:89638247-89638574	HepG2	liver:	n/a	chr13:89638403-89638418
22	POLR2A	chr13:89655906-89656243	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr13:89655892-89656355	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr13:89654424-89654568	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr13:89637414-89637594	GM12878	blood:	n/a	n/a
26	POLR2A	chr13:89646244-89646444	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr13:89637265-89637404	GM12878	blood:	n/a	n/a
28	SIN3A	chr13:89648744-89648779	GM12878	blood:	n/a	n/a
29	STAT3	chr13:89651666-89651970	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr13:89635093-89635301	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr13:89643234-89643340	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr13:89643051-89643192	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr13:89650428-89650561	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GRPEL2P1	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188193018	chr13:89634035-89634036	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs180722876	chr13:89634040-89634041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150894217	chr13:89634317-89634318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs575753317	chr13:89634331-89634332	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs541475987	chr13:89634370-89634371	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs115863132	chr13:89634371-89634372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs139767524	chr13:89634414-89634415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs73579805	chr13:89634423-89634424	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192063023	chr13:89634437-89634438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191631621	chr13:89635115-89635116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4773424	chr13:89635132-89635133	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546004683	chr13:89635161-89635162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557391817	chr13:89635164-89635165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs146191240	chr13:89635165-89635166	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs139182870	chr13:89635247-89635248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73579841	chr13:89645238-89645239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114104880	chr13:89645278-89645279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73579843	chr13:89645299-89645300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562306757	chr13:89645302-89645303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559705523	chr13:89645336-89645337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569125477	chr13:89645360-89645361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527971070	chr13:89645449-89645450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573424055	chr13:89645497-89645498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143882607	chr13:89645498-89645499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373632409	chr13:89645530-89645531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148213862	chr13:89645554-89645555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564783357	chr13:89645585-89645586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553008778	chr13:89645616-89645617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79224833	chr13:89645635-89645636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539017940	chr13:89645690-89645691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557114674	chr13:89645706-89645707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575876230	chr13:89645728-89645729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141221096	chr13:89645757-89645758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555318611	chr13:89645797-89645798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182080660	chr13:89645817-89645818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147404687	chr13:89645820-89645821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139618239	chr13:89645836-89645837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72641301	chr13:89645853-89645854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79701103	chr13:89645903-89645904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370303506	chr13:89645908-89645909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143640701	chr13:89645919-89645920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147210237	chr13:89645927-89645928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529663442	chr13:89645940-89645941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139640717	chr13:89645971-89645972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7332112	chr13:89645979-89645980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533759143	chr13:89645983-89645984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149766206	chr13:89645986-89645987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527437594	chr13:89646074-89646075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117566138	chr13:89646087-89646088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571701773	chr13:89646158-89646159	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	16651412	CNVD
Burkitt''s lymphoma	19759907	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:89645200-89646800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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