Variant report

Variant	nsv982541
Chromosome Location	chr9:85048466-85052919
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	CEBPB	chr9:85051501-85051701	IMR90	lung:	n/a	n/a
2	CTCF	chr9:85050260-85050410	HEK293	kidney:	n/a	n/a
3	E2F4	chr9:85051827-85051844	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr9:85051367-85051738	MCF10A-Er-Src	breast:	n/a	chr9:85051572-85051580
5	FOS	chr9:85052098-85052556	MCF10A-Er-Src	breast:	n/a	chr9:85052177-85052189
6	FOS	chr9:85052464-85052664	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr9:85052097-85052677	MCF10A-Er-Src	breast:	n/a	chr9:85052177-85052189
8	FOS	chr9:85051421-85051709	MCF10A-Er-Src	breast:	n/a	chr9:85051572-85051580
9	FOS	chr9:85051510-85051576	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:85052097-85052678	MCF10A-Er-Src	breast:	n/a	chr9:85052177-85052189
11	FOS	chr9:85051352-85051728	MCF10A-Er-Src	breast:	n/a	chr9:85051572-85051580
12	FOSL2	chr9:85049033-85049345	HepG2	liver:	n/a	n/a
13	FOSL2	chr9:85048835-85049078	HepG2	liver:	n/a	n/a
14	MYC	chr9:85052334-85052373	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr9:85048672-85049373	GM12878	blood:	n/a	n/a
16	POU2F2	chr9:85048734-85049023	GM12878	blood:	n/a	n/a
17	RCOR1	chr9:85051392-85051818	IMR90	lung:	n/a	n/a
18	SETDB1	chr9:85049886-85050328	U2OS	brain:	n/a	n/a
19	STAT3	chr9:85052043-85052513	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
20	STAT3	chr9:85052061-85052663	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
21	STAT3	chr9:85051350-85051691	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr9:85052146-85052346	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
23	STAT3	chr9:85051967-85052631	MCF10A-Er-Src	breast:	n/a	chr9:85052241-85052252
24	STAT3	chr9:85051308-85051731	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr9:85051356-85051690	MCF10A-Er-Src	breast:	n/a	n/a
26	TAF1	chr9:85049074-85049226	Hela-S3	cervix:	n/a	n/a
27	TCF3	chr9:85048826-85049072	GM12878	blood:	n/a	n/a
28	ZBTB33	chr9:85048785-85049035	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM75B-4	chr9:85051617-85052093	expReg_chr9_3630_-

Variant related genes	Relation type
ENSG00000228123	TF binding region

Extended variants
information (count: 151 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs536950416	chr9:85048476-85048477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191498057	chr9:85048494-85048495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183686860	chr9:85048548-85048549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533623527	chr9:85048550-85048551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34845422	chr9:85048566-85048567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576746771	chr9:85048567-85048568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544234874	chr9:85048586-85048587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562437757	chr9:85048595-85048596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574343057	chr9:85048596-85048597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371605521	chr9:85048619-85048620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146069940	chr9:85048641-85048642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527514864	chr9:85048656-85048657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138929408	chr9:85048708-85048709	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575146227	chr9:85048724-85048725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs565421273	chr9:85048736-85048737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs544177396	chr9:85048746-85048747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs186523893	chr9:85048751-85048752	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs557594338	chr9:85048752-85048753	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550907329	chr9:85048753-85048754	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569284648	chr9:85048778-85048779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs3866537	chr9:85048811-85048812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs4011712	chr9:85048824-85048825	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571554179	chr9:85048841-85048842	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs3866538	chr9:85048856-85048857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs4011713	chr9:85048881-85048882	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3877997	chr9:85048888-85048889	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4011714	chr9:85048956-85048957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4011715	chr9:85048970-85048971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs4011716	chr9:85048995-85048996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs4011717	chr9:85048996-85048997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113371838	chr9:85049009-85049010	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4011718	chr9:85049018-85049019	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs4011719	chr9:85049042-85049043	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs191207889	chr9:85049065-85049066	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs4011720	chr9:85049072-85049073	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs4011721	chr9:85049123-85049124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs567048597	chr9:85049181-85049182	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs372257381	chr9:85049224-85049225	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs4011722	chr9:85049259-85049260	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs577313742	chr9:85049267-85049268	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs534437927	chr9:85049331-85049332	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558359214	chr9:85049367-85049368	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11139568	chr9:85049634-85049635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138377504	chr9:85049685-85049686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555697061	chr9:85049713-85049714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369831626	chr9:85049738-85049739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541701926	chr9:85049761-85049762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553687886	chr9:85049821-85049822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572140033	chr9:85049840-85049841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538824275	chr9:85049997-85049998	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Epilepsy	20502679	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85048200-85051600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:85051400-85051800	Enhancers	Osteobl	bone
3	chr9:85051400-85052000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:85051400-85052600	Enhancers	NHEK	skin
5	chr9:85051600-85052000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr9:85051600-85052000	Enhancers	NH-A	brain
7	chr9:85051600-85052400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:85051600-85052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:85051600-85052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:85051600-85053400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:85051600-85054000	Enhancers	HMEC	breast
12	chr9:85052000-85053200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:85052400-85053000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:85052400-85053000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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