Variant report

Variant	nsv974111
Chromosome Location	chr13:90484498-90487010
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	CTCF	chr13:90485180-90485241	GM10248	blood:	n/a	n/a
2	E2F4	chr13:90486471-90486643	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr13:90485070-90485449	A549	lung:	n/a	n/a
4	EP300	chr13:90486593-90486628	GM12878	blood:	n/a	n/a
5	EP300	chr13:90484997-90485509	A549	lung:	n/a	n/a
6	GTF2F1	chr13:90485727-90485806	K562	blood:	n/a	n/a
7	IRF1	chr13:90485873-90485968	K562	blood:	n/a	n/a
8	IRF1	chr13:90486356-90486781	K562	blood:	n/a	n/a
9	POLR2A	chr13:90486625-90486689	MCF10A-Er-Src	breast:	n/a	n/a
10	SP1	chr13:90484936-90485514	A549	lung:	n/a	n/a
11	SP1	chr13:90484958-90485516	A549	lung:	n/a	n/a
12	TBL1XR1	chr13:90485699-90485775	K562	blood:	n/a	n/a
13	TCF12	chr13:90485018-90485479	A549	lung:	n/a	n/a
14	ZMIZ1	chr13:90485272-90485274	K562	blood:	n/a	n/a

Variant related genes	Relation type
RPL7L1P1	TF binding region
ENSG00000200733	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534324765	chr13:90484511-90484512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10507978	chr13:90484515-90484516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs143232780	chr13:90484542-90484543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114914241	chr13:90484571-90484572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185320978	chr13:90484583-90484584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188289123	chr13:90484672-90484673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550368698	chr13:90484678-90484679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568683394	chr13:90484691-90484692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557328190	chr13:90484760-90484761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554171268	chr13:90484789-90484790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566062155	chr13:90484807-90484808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372042264	chr13:90484816-90484817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542594737	chr13:90484862-90484863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559447587	chr13:90484937-90484938	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs372542075	chr13:90484950-90484951	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs9560469	chr13:90485001-90485002	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557814847	chr13:90485046-90485047	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs180762155	chr13:90485062-90485063	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs375325226	chr13:90485073-90485074	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs377113350	chr13:90485076-90485077	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs543533666	chr13:90485103-90485104	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs56205324	chr13:90485128-90485129	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555110327	chr13:90485159-90485160	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573764799	chr13:90485183-90485184	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs541275411	chr13:90485220-90485221	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs559437612	chr13:90485307-90485308	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs545212146	chr13:90485308-90485309	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs186442373	chr13:90485327-90485328	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565096936	chr13:90485330-90485331	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs114453311	chr13:90485331-90485332	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs531240162	chr13:90485343-90485344	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs145738343	chr13:90485352-90485353	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530584882	chr13:90485376-90485377	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs192246955	chr13:90485382-90485383	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs148984119	chr13:90485384-90485385	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs551038756	chr13:90485413-90485414	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs34856599	chr13:90485416-90485417	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs116544031	chr13:90485430-90485431	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs183679889	chr13:90485437-90485438	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs566279743	chr13:90485490-90485491	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs531857189	chr13:90485500-90485501	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs369459938	chr13:90485505-90485506	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs41460851	chr13:90485520-90485521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557704210	chr13:90485581-90485582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374309533	chr13:90485595-90485596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537108700	chr13:90485601-90485602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555446154	chr13:90485609-90485610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573780236	chr13:90485631-90485632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534559366	chr13:90485676-90485677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186985267	chr13:90485730-90485731	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
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
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
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90480200-90484600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:90480400-90484600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:90483200-90485200	Weak transcription	Fetal Lung	lung
4	chr13:90484000-90485000	Weak transcription	A549	lung
5	chr13:90484600-90485200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:90484600-90485400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:90485000-90485400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:90485000-90486000	Enhancers	A549	lung
9	chr13:90485200-90485600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr13:90485200-90485800	Enhancers	Fetal Lung	lung

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