Variant report

Variant	nsv968757
Chromosome Location	chr9:32355-47190
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	ATF1	chr9:44552-44676	K562	blood:	n/a	n/a
2	ATF3	chr9:44488-44733	K562	blood:	n/a	n/a
3	BATF	chr9:32954-33132	GM12878	blood:	n/a	n/a
4	BHLHE40	chr9:32636-33083	HepG2	liver:	n/a	n/a
5	CBX3	chr9:32087-32874	K562	blood:	n/a	n/a
6	CBX3	chr9:37157-39076	K562	blood:	n/a	n/a
7	CBX3	chr9:33813-35036	K562	blood:	n/a	n/a
8	CBX3	chr9:31837-33133	K562	blood:	n/a	n/a
9	CBX3	chr9:38287-38723	K562	blood:	n/a	n/a
10	CBX3	chr9:36125-36663	K562	blood:	n/a	n/a
11	CEBPB	chr9:43730-43943	IMR90	lung:	n/a	chr9:43821-43832 chr9:43863-43874
12	CEBPB	chr9:38050-38808	K562	blood:	n/a	n/a
13	CEBPB	chr9:43748-43974	K562	blood:	n/a	chr9:43821-43832 chr9:43863-43874
14	CEBPB	chr9:43732-43951	Hela-S3	cervix:	n/a	chr9:43821-43832 chr9:43863-43874
15	CEBPB	chr9:31850-33257	K562	blood:	n/a	n/a
16	CEBPB	chr9:36130-36607	K562	blood:	n/a	n/a
17	CEBPB	chr9:43681-44036	K562	blood:	n/a	chr9:43821-43832 chr9:43863-43874
18	CEBPB	chr9:43689-43963	A549	lung:	n/a	chr9:43821-43832 chr9:43863-43874
19	CEBPB	chr9:43731-43929	HepG2	liver:	n/a	chr9:43821-43832 chr9:43863-43874
20	CEBPB	chr9:43628-44032	K562	blood:	n/a	chr9:43821-43832 chr9:43863-43874
21	CEBPB	chr9:38292-38653	K562	blood:	n/a	n/a
22	CEBPB	chr9:46263-46360	IMR90	lung:	n/a	n/a
23	CEBPD	chr9:34124-34447	K562	blood:	n/a	n/a
24	CEBPD	chr9:36082-36868	K562	blood:	n/a	n/a
25	CEBPD	chr9:32078-32803	K562	blood:	n/a	n/a
26	CEBPD	chr9:38248-38794	K562	blood:	n/a	n/a
27	CTCF	chr9:32361-32590	K562	blood:	n/a	n/a
28	E2F6	chr9:34498-34595	K562	blood:	n/a	n/a
29	E2F6	chr9:32493-32610	K562	blood:	n/a	n/a
30	EBF1	chr9:34027-34289	GM12878	blood:	n/a	n/a
31	EBF1	chr9:32602-32777	GM12878	blood:	n/a	n/a
32	EBF1	chr9:34118-34334	GM12878	blood:	n/a	n/a
33	EGR1	chr9:46259-46475	K562	blood:	n/a	n/a
34	EGR1	chr9:46263-46504	K562	blood:	n/a	n/a
35	EP300	chr9:34726-34971	GM12878	blood:	n/a	n/a
36	EP300	chr9:32370-32589	K562	blood:	n/a	n/a
37	EP300	chr9:43668-44026	K562	blood:	n/a	n/a
38	EP300	chr9:37211-37606	GM12878	blood:	n/a	n/a
39	EP300	chr9:37872-38229	GM12878	blood:	n/a	n/a
40	EP300	chr9:34029-34363	GM12878	blood:	n/a	n/a
41	EP300	chr9:32412-32662	GM12878	blood:	n/a	n/a
42	EP300	chr9:38608-38885	GM12878	blood:	n/a	n/a
43	EP300	chr9:44587-44620	K562	blood:	n/a	n/a
44	FOS	chr9:43766-43880	MCF10A-Er-Src	breast:	n/a	n/a
45	FOSL2	chr9:39682-39993	HepG2	liver:	n/a	n/a
46	FOSL2	chr9:38786-39387	HepG2	liver:	n/a	n/a
47	FOSL2	chr9:39038-39334	HepG2	liver:	n/a	n/a
48	FOSL2	chr9:38174-38766	HepG2	liver:	n/a	chr9:38490-38501
49	FOSL2	chr9:37361-38199	HepG2	liver:	n/a	chr9:37730-37741
50	FOSL2	chr9:33769-35146	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM138C-2	chr9:35028-35264	ENSG00000218839.3
2	lnc-FAM138C-2	chr9:35504-35841	ENSG00000218839.3
3	lnc-FAM138C-2	chr9:35504-35856	ENSG00000218839.3
4	lnc-FAM138C-2	chr9:35504-35864	NONHSAT129883
5	lnc-FAM138C-2	chr9:35060-35264	ENSG00000218839.3
6	lnc-FAM138C-2	chr9:35060-35264	NONHSAT129883
7	lnc-FAM138C-2	chr9:34394-34957	ENSG00000218839.3
8	lnc-FAM138C-2	chr9:34394-34957	NONHSAT129883

Variant related genes	Relation type
FAM138C	TF binding region
ENSG00000181404	TF binding region

Extended variants
information (count: 493 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376972705	chr9:32363-32364	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533093000	chr9:32376-32377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200942212	chr9:32416-32417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551734841	chr9:32424-32425	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566750729	chr9:32465-32466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201297388	chr9:32518-32519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199650447	chr9:32538-32539	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113861604	chr9:32566-32567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201601403	chr9:32616-32617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549191316	chr9:32829-32830	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370315977	chr9:32918-32919	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs199916539	chr9:32932-32933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567379825	chr9:32949-32950	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs377070882	chr9:33043-33044	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370378093	chr9:33114-33115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs374124029	chr9:33139-33140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368308360	chr9:33162-33163	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370768223	chr9:33183-33184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs184525769	chr9:33204-33205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201325758	chr9:33302-33303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200166559	chr9:33312-33313	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs368717168	chr9:33316-33317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537917198	chr9:33324-33325	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375386825	chr9:33338-33339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs62531165	chr9:33382-33383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201110820	chr9:33439-33440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs368732264	chr9:33489-33490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs371692642	chr9:33530-33531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs62531166	chr9:34493-34494	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs62531167	chr9:34553-34554	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs200002845	chr9:34568-34569	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs145629991	chr9:34737-34738	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs424484	chr9:35070-35071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs374850	chr9:35099-35100	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs9408059	chr9:35199-35200	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs201982037	chr9:35541-35542	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs200029577	chr9:36269-36270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs201108047	chr9:36307-36308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs202117845	chr9:36313-36314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs79012958	chr9:36508-36509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs201244578	chr9:37221-37222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs202182986	chr9:37345-37346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200492591	chr9:37371-37372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201767999	chr9:37499-37500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs199544297	chr9:37619-37620	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs200271684	chr9:37822-37823	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201113295	chr9:37925-37926	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs199728703	chr9:38185-38186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111825891	chr9:38302-38303	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200674775	chr9:38388-38389	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 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
10	chr9:42400-43800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:43800-44000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr9:43800-44800	Enhancers	K562	blood
13	chr9:44000-44200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr9:44800-46200	Weak transcription	K562	blood
15	chr9:46200-47600	Enhancers	K562	blood
16	chr9:46400-46600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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