Variant report

Variant	nsv973634
Chromosome Location	chr9:44101518-44113586
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	ARID3A	chr9:44108136-44108696	HepG2	liver:	n/a	n/a
2	BATF	chr9:44110679-44110958	GM12878	blood:	n/a	n/a
3	BATF	chr9:44108799-44108996	GM12878	blood:	n/a	n/a
4	BATF	chr9:44112676-44113049	GM12878	blood:	n/a	n/a
5	BATF	chr9:44108339-44108646	GM12878	blood:	n/a	chr9:44108541-44108552
6	BATF	chr9:44108319-44108733	GM12878	blood:	n/a	chr9:44108541-44108552
7	BATF	chr9:44107334-44107970	GM12878	blood:	n/a	n/a
8	BATF	chr9:44105673-44105873	GM12878	blood:	n/a	n/a
9	BATF	chr9:44107144-44107983	GM12878	blood:	n/a	n/a
10	BATF	chr9:44110695-44110955	GM12878	blood:	n/a	n/a
11	BATF	chr9:44108035-44108219	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:44103969-44104258	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:44110718-44110942	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:44108412-44108650	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:44103908-44104164	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:44112708-44113005	GM12878	blood:	n/a	chr9:44112966-44112975 chr9:44112899-44112908
17	BCL11A	chr9:44111186-44111350	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:44110687-44111019	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:44108722-44108987	GM12878	blood:	n/a	n/a
20	BCL11A	chr9:44107319-44107904	GM12878	blood:	n/a	chr9:44107577-44107586 chr9:44107612-44107621 chr9:44107524-44107533
21	BCL11A	chr9:44108328-44108717	GM12878	blood:	n/a	n/a
22	BCL11A	chr9:44101727-44101911	GM12878	blood:	n/a	n/a
23	BCL11A	chr9:44107081-44108055	GM12878	blood:	n/a	chr9:44107577-44107586 chr9:44107947-44107956 chr9:44107612-44107621 chr9:44107524-44107533 chr9:44107946-44107955
24	CEBPB	chr9:44108265-44108558	HepG2	liver:	n/a	n/a
25	CTCF	chr9:44104622-44104709	GM13977	blood:	n/a	n/a
26	CTCF	chr9:44110699-44110763	Kidney_OC	kidney:	n/a	n/a
27	EBF1	chr9:44103961-44104161	GM12878	blood:	n/a	n/a
28	EBF1	chr9:44105783-44106111	GM12878	blood:	n/a	n/a
29	EBF1	chr9:44107518-44107837	GM12878	blood:	n/a	n/a
30	EBF1	chr9:44107362-44107802	GM12878	blood:	n/a	n/a
31	EBF1	chr9:44106831-44107058	GM12878	blood:	n/a	n/a
32	EBF1	chr9:44108646-44108931	GM12878	blood:	n/a	n/a
33	EP300	chr9:44108186-44108628	HepG2	liver:	n/a	n/a
34	EP300	chr9:44107398-44107802	GM12878	blood:	n/a	n/a
35	EP300	chr9:44103985-44104154	GM12878	blood:	n/a	n/a
36	EP300	chr9:44113361-44113809	GM12878	blood:	n/a	n/a
37	EP300	chr9:44107349-44107956	GM12878	blood:	n/a	chr9:44107946-44107955
38	EP300	chr9:44110648-44110858	HepG2	liver:	n/a	n/a
39	EP300	chr9:44110625-44110952	GM12878	blood:	n/a	n/a
40	EP300	chr9:44108040-44108299	GM12878	blood:	n/a	n/a
41	EP300	chr9:44103946-44104298	GM12878	blood:	n/a	n/a
42	FOSL2	chr9:44107373-44108811	HepG2	liver:	n/a	chr9:44107948-44107955 chr9:44107947-44107955 chr9:44107445-44107459
43	FOSL2	chr9:44109196-44109535	HepG2	liver:	n/a	n/a
44	FOSL2	chr9:44107396-44107672	HepG2	liver:	n/a	chr9:44107445-44107459
45	FOSL2	chr9:44108043-44108724	HepG2	liver:	n/a	n/a
46	FOXA1	chr9:44107986-44108801	HepG2	liver:	n/a	n/a
47	FOXA1	chr9:44110602-44111055	HepG2	liver:	n/a	chr9:44111029-44111041
48	FOXA1	chr9:44108179-44108642	HepG2	liver:	n/a	n/a
49	FOXA1	chr9:44108205-44108640	HepG2	liver:	n/a	n/a
50	FOXA1	chr9:44110544-44110872	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RNU6-599P	TF binding region

Extended variants
information (count: 686 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546030937	chr9:44101546-44101547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564425486	chr9:44101603-44101604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573487631	chr9:44101657-44101658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62538307	chr9:44101660-44101661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561955239	chr9:44101678-44101679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529341675	chr9:44101694-44101695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531484197	chr9:44101706-44101707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62538308	chr9:44101719-44101720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs530707351	chr9:44101730-44101731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181056412	chr9:44101732-44101733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367582497	chr9:44101750-44101751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113742309	chr9:44101753-44101754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570728900	chr9:44101779-44101780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78388474	chr9:44101785-44101786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534625945	chr9:44101797-44101798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201089525	chr9:44101798-44101799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200600470	chr9:44101799-44101800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567969669	chr9:44101808-44101809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535482687	chr9:44101831-44101832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556630984	chr9:44101833-44101834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575031890	chr9:44101840-44101841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200146027	chr9:44101851-44101852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199504218	chr9:44101870-44101871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539623581	chr9:44101884-44101885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62538309	chr9:44101888-44101889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557952065	chr9:44101891-44101892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185902735	chr9:44101894-44101895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540573420	chr9:44101908-44101909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562452296	chr9:44101909-44101910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573940504	chr9:44101917-44101918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201006884	chr9:44101980-44101981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544650860	chr9:44101990-44101991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191546587	chr9:44102036-44102037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375197210	chr9:44102157-44102158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369551997	chr9:44102163-44102164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138291560	chr9:44102186-44102187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113033504	chr9:44102187-44102188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202188934	chr9:44102189-44102190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200285179	chr9:44102191-44102192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62538310	chr9:44102207-44102208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199730866	chr9:44102215-44102216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564280423	chr9:44102224-44102225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369603041	chr9:44102231-44102232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528343480	chr9:44102242-44102243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546577485	chr9:44102261-44102262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373327986	chr9:44102356-44102357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377554001	chr9:44102381-44102382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535091641	chr9:44102383-44102384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550190543	chr9:44102384-44102385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368931171	chr9:44102403-44102404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Lung adenocarcinoma	17086460	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Lung cancer	17086460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:44093400-44109800	Weak transcription	Liver	Liver
2	chr9:44107800-44108000	Enhancers	HepG2	liver
3	chr9:44109600-44111200	Weak transcription	HepG2	liver
4	chr9:44109800-44110200	Enhancers	Liver	Liver
5	chr9:44110200-44112000	Weak transcription	Liver	Liver
6	chr9:44111200-44111400	Enhancers	HepG2	liver
7	chr9:44112000-44113000	Enhancers	Liver	Liver
8	chr9:44113000-44114000	Weak transcription	Liver	Liver

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