Variant report

Variant	esv3449696
Chromosome Location	chr9:36352-42150
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	CBX3	chr9:38287-38723	K562	blood:	n/a	n/a
2	CBX3	chr9:37157-39076	K562	blood:	n/a	n/a
3	CBX3	chr9:36125-36663	K562	blood:	n/a	n/a
4	CEBPB	chr9:36130-36607	K562	blood:	n/a	n/a
5	CEBPB	chr9:38050-38808	K562	blood:	n/a	n/a
6	CEBPB	chr9:38292-38653	K562	blood:	n/a	n/a
7	CEBPD	chr9:36082-36868	K562	blood:	n/a	n/a
8	CEBPD	chr9:38248-38794	K562	blood:	n/a	n/a
9	EP300	chr9:37211-37606	GM12878	blood:	n/a	n/a
10	EP300	chr9:38608-38885	GM12878	blood:	n/a	n/a
11	EP300	chr9:37872-38229	GM12878	blood:	n/a	n/a
12	FOSL2	chr9:38786-39387	HepG2	liver:	n/a	n/a
13	FOSL2	chr9:36185-36746	HepG2	liver:	n/a	chr9:36583-36592 chr9:36585-36592 chr9:36582-36593
14	FOSL2	chr9:38174-38766	HepG2	liver:	n/a	chr9:38490-38501
15	FOSL2	chr9:37361-38199	HepG2	liver:	n/a	chr9:37730-37741
16	FOSL2	chr9:39038-39334	HepG2	liver:	n/a	n/a
17	FOSL2	chr9:38220-38944	HepG2	liver:	n/a	chr9:38490-38501
18	FOSL2	chr9:39682-39993	HepG2	liver:	n/a	n/a
19	FOSL2	chr9:36188-36536	HepG2	liver:	n/a	n/a
20	GABPA	chr9:37782-38271	Hela-S3	cervix:	n/a	n/a
21	GABPA	chr9:38627-38911	Hela-S3	cervix:	n/a	n/a
22	GABPA	chr9:37709-37837	Hela-S3	cervix:	n/a	n/a
23	GABPA	chr9:38445-38604	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr9:36192-36569	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr9:37189-37769	Hela-S3	cervix:	n/a	n/a
26	GABPA	chr9:36241-36396	Hela-S3	cervix:	n/a	n/a
27	GABPA	chr9:38307-38923	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr9:39031-39302	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr9:37456-37634	Hela-S3	cervix:	n/a	n/a
30	GATA2	chr9:33620-37011	K562	blood:	n/a	chr9:36660-36670 chr9:36639-36648 chr9:36582-36591
31	GATA2	chr9:37081-39456	K562	blood:	n/a	n/a
32	HEY1	chr9:37037-39347	K562	blood:	n/a	n/a
33	HEY1	chr9:35288-39469	K562	blood:	n/a	n/a
34	HEY1	chr9:39673-40233	K562	blood:	n/a	n/a
35	HEY1	chr9:35610-37008	K562	blood:	n/a	n/a
36	HEY1	chr9:36257-36529	HepG2	liver:	n/a	n/a
37	JUND	chr9:39666-40079	HepG2	liver:	n/a	n/a
38	JUND	chr9:38392-38592	HepG2	liver:	n/a	n/a
39	JUND	chr9:37682-37870	HepG2	liver:	n/a	chr9:37730-37741
40	JUND	chr9:37955-38155	HepG2	liver:	n/a	n/a
41	JUND	chr9:36182-36642	HepG2	liver:	n/a	chr9:36583-36592 chr9:36585-36592 chr9:36582-36593
42	JUND	chr9:37154-37339	HepG2	liver:	n/a	n/a
43	JUND	chr9:38317-38986	HepG2	liver:	n/a	n/a
44	NR2F2	chr9:38282-38691	K562	blood:	n/a	n/a
45	NR2F2	chr9:36011-36908	K562	blood:	n/a	n/a
46	NR2F2	chr9:37135-39057	K562	blood:	n/a	n/a
47	PAX5	chr9:37551-37859	GM12878	blood:	n/a	chr9:37766-37776
48	PAX5	chr9:39049-39268	GM12878	blood:	n/a	n/a
49	PAX5	chr9:36179-36780	GM12878	blood:	n/a	n/a
50	PAX5	chr9:39737-39892	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FAM138C	TF binding region

Extended variants
information (count: 190 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs79012958	chr9:36508-36509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201244578	chr9:37221-37222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs202182986	chr9:37345-37346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200492591	chr9:37371-37372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201767999	chr9:37499-37500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199544297	chr9:37619-37620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200271684	chr9:37822-37823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201113295	chr9:37925-37926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs199728703	chr9:38185-38186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs111825891	chr9:38302-38303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200674775	chr9:38388-38389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571252699	chr9:38404-38405	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201653007	chr9:38524-38525	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199643581	chr9:38797-38798	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs367841173	chr9:38962-38963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs372029425	chr9:38967-38968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376864329	chr9:38985-38986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs806724	chr9:39002-39003	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs9406929	chr9:39006-39007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs62531189	chr9:39012-39013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62531190	chr9:39029-39030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs2492179	chr9:39037-39038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs142178595	chr9:39039-39040	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs9408135	chr9:39043-39044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201977229	chr9:39071-39072	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs573190378	chr9:39150-39151	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs370266944	chr9:39161-39162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs11489804	chr9:39188-39189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369395128	chr9:39205-39206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375971758	chr9:39212-39213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs370661236	chr9:39222-39223	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs574475982	chr9:39269-39270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs373058508	chr9:39270-39271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs9408136	chr9:39360-39361	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201124578	chr9:39384-39385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs202212918	chr9:39386-39387	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200367069	chr9:39404-39405	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs76661657	chr9:39413-39414	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187822601	chr9:39423-39424	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs80126795	chr9:39444-39445	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs574074175	chr9:39448-39449	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs188840810	chr9:39457-39458	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62531193	chr9:39458-39459	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs544660474	chr9:39459-39460	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368048139	chr9:39486-39487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs80129253	chr9:39504-39505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76387137	chr9:39508-39509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533391126	chr9:39513-39514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62531194	chr9:39516-39517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560476398	chr9:39517-39518	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:39400-40200	Enhancers	K562	blood
2	chr9:40200-41200	Weak transcription	K562	blood
3	chr9:40800-41200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr9:41000-42000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:41000-42000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr9:41200-41600	Enhancers	K562	blood
7	chr9:41200-41600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr9:41600-42400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr9:41600-43800	Weak transcription	K562	blood

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