Variant report

Variant	nsv972444
Chromosome Location	chr9:117457193-117459000
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	ATF2	chr9:117458844-117459975	GM12878	blood:	n/a	n/a
2	ATF2	chr9:117458851-117459964	GM12878	blood:	n/a	n/a
3	ATF2	chr9:117457098-117457614	GM12878	blood:	n/a	n/a
4	ATF2	chr9:117456946-117457699	GM12878	blood:	n/a	n/a
5	BATF	chr9:117458938-117459917	GM12878	blood:	n/a	n/a
6	BATF	chr9:117458835-117459922	GM12878	blood:	n/a	n/a
7	BATF	chr9:117457063-117457590	GM12878	blood:	n/a	chr9:117457293-117457303 chr9:117457292-117457303
8	BATF	chr9:117457058-117457627	GM12878	blood:	n/a	chr9:117457293-117457303 chr9:117457292-117457303
9	BCL11A	chr9:117458975-117459450	GM12878	blood:	n/a	n/a
10	BCL11A	chr9:117458914-117459921	GM12878	blood:	n/a	chr9:117459654-117459663 chr9:117459655-117459664
11	BCL11A	chr9:117457042-117457585	GM12878	blood:	n/a	chr9:117457292-117457301
12	BCL11A	chr9:117457129-117457421	GM12878	blood:	n/a	chr9:117457292-117457301
13	BCL3	chr9:117458978-117459390	GM12878	blood:	n/a	n/a
14	BCL3	chr9:117457173-117457557	GM12878	blood:	n/a	chr9:117457292-117457301
15	BCL3	chr9:117457165-117457544	GM12878	blood:	n/a	chr9:117457292-117457301
16	BCL3	chr9:117458967-117459426	GM12878	blood:	n/a	n/a
17	BCLAF1	chr9:117457106-117457578	GM12878	blood:	n/a	chr9:117457292-117457301
18	BCLAF1	chr9:117457050-117457610	GM12878	blood:	n/a	chr9:117457292-117457301
19	BCLAF1	chr9:117458957-117460035	GM12878	blood:	n/a	chr9:117459654-117459663 chr9:117459655-117459664
20	CEBPB	chr9:117457142-117457453	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr9:117458291-117458433	H1-hESC	embryonic stem cell:	n/a	chr9:117458411-117458422
22	CEBPB	chr9:117457133-117457473	IMR90	lung:	n/a	n/a
23	CEBPB	chr9:117458256-117458520	A549	lung:	n/a	chr9:117458411-117458422
24	CEBPB	chr9:117458818-117460003	GM12878	blood:	n/a	n/a
25	CEBPB	chr9:117458280-117458525	HepG2	liver:	n/a	chr9:117458411-117458422
26	CEBPB	chr9:117457042-117457580	A549	lung:	n/a	n/a
27	CEBPB	chr9:117458301-117458509	K562	blood:	n/a	chr9:117458411-117458422
28	CEBPB	chr9:117458291-117458531	IMR90	lung:	n/a	chr9:117458411-117458422
29	CEBPB	chr9:117457218-117457351	HepG2	liver:	n/a	n/a
30	CEBPB	chr9:117457197-117457463	A549	lung:	n/a	n/a
31	CEBPB	chr9:117458285-117458530	Hela-S3	cervix:	n/a	chr9:117458411-117458422
32	EBF1	chr9:117458816-117459844	GM12878	blood:	n/a	chr9:117459141-117459152
33	EBF1	chr9:117458832-117459908	GM12878	blood:	n/a	chr9:117459141-117459152
34	EBF1	chr9:117458832-117459749	GM12878	blood:	n/a	chr9:117459141-117459152
35	EBF1	chr9:117457042-117457625	GM12878	blood:	n/a	n/a
36	EBF1	chr9:117457237-117457537	GM12878	blood:	n/a	n/a
37	EBF1	chr9:117457186-117457560	GM12878	blood:	n/a	n/a
38	ELF1	chr9:117457171-117457572	GM12878	blood:	n/a	n/a
39	EP300	chr9:117458993-117459445	GM12878	blood:	n/a	n/a
40	EP300	chr9:117458997-117459992	GM12878	blood:	n/a	chr9:117459654-117459663 chr9:117459655-117459664
41	EP300	chr9:117456038-117457202	SK-N-SH	brain:	n/a	n/a
42	EP300	chr9:117457195-117457472	GM12878	blood:	n/a	chr9:117457291-117457300
43	ESRRA	chr9:117458747-117461479	GM12878	blood:	n/a	chr9:117459306-117459322 chr9:117461416-117461426 chr9:117461414-117461427 chr9:117459301-117459317 chr9:117461414-117461430 chr9:117459308-117459318 chr9:117461414-117461426 chr9:117459308-117459318
44	FOS	chr9:117458395-117458427	MCF10A-Er-Src	breast:	n/a	n/a
45	FOSL2	chr9:117456164-117457607	SK-N-SH	brain:	n/a	chr9:117457291-117457301 chr9:117457293-117457300 chr9:117457290-117457302 chr9:117457291-117457300 chr9:117457291-117457301
46	FOXM1	chr9:117458792-117460455	GM12878	blood:	n/a	n/a
47	FOXM1	chr9:117458886-117459923	GM12878	blood:	n/a	n/a
48	FOXM1	chr9:117456945-117457676	GM12878	blood:	n/a	n/a
49	FOXM1	chr9:117457006-117457579	GM12878	blood:	n/a	n/a
50	IKZF1	chr9:117457081-117457562	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117455344..117457782-chr9:117461706..117463500,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230284	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34450538	chr9:117457206-117457207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527503474	chr9:117457210-117457211	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115839393	chr9:117457211-117457212	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546600873	chr9:117457282-117457283	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs367985727	chr9:117457313-117457314	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112186675	chr9:117457341-117457342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532539422	chr9:117457345-117457346	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552336581	chr9:117457372-117457373	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75951570	chr9:117457380-117457381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs559374212	chr9:117457432-117457433	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184807159	chr9:117457544-117457545	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375571798	chr9:117457589-117457590	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186540396	chr9:117457592-117457593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575822506	chr9:117457628-117457629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534153271	chr9:117457693-117457694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367861741	chr9:117457697-117457698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554028852	chr9:117457704-117457705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4979456	chr9:117457718-117457719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539418343	chr9:117457719-117457720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555841389	chr9:117457831-117457832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576000450	chr9:117457860-117457861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541528029	chr9:117457871-117457872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201812909	chr9:117457917-117457918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60198145	chr9:117457918-117457919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528916917	chr9:117457924-117457925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112956877	chr9:117457954-117457955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35025425	chr9:117457977-117457978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142242655	chr9:117458003-117458004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541624306	chr9:117458031-117458032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375114478	chr9:117458119-117458120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78431438	chr9:117458174-117458175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541265846	chr9:117458186-117458187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11999904	chr9:117458214-117458215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563530812	chr9:117458247-117458248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564366396	chr9:117458253-117458254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145660686	chr9:117458260-117458261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138224591	chr9:117458274-117458275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550058220	chr9:117458282-117458283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12000289	chr9:117458300-117458301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142717535	chr9:117458302-117458303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150647016	chr9:117458357-117458358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573507194	chr9:117458361-117458362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368908942	chr9:117458370-117458371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115163413	chr9:117458447-117458448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17237046	chr9:117458475-117458476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs191393264	chr9:117458487-117458488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532640077	chr9:117458515-117458516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11791184	chr9:117458533-117458534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570717397	chr9:117458582-117458583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184649102	chr9:117458607-117458608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117452600-117457600	Enhancers	NHDF-Ad	bronchial
2	chr9:117453600-117457600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:117454000-117457400	Enhancers	HSMMtube	muscle
4	chr9:117454000-117457600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:117454000-117457600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:117454000-117457600	Enhancers	HMEC	breast
7	chr9:117454000-117459000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:117454000-117459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:117454200-117459600	Weak transcription	Hela-S3	cervix
10	chr9:117454400-117458200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr9:117454600-117458800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr9:117454600-117458800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr9:117454600-117459200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr9:117454800-117458800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr9:117454800-117459000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr9:117455000-117459000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:117455200-117457200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:117455200-117457200	Enhancers	NHLF	lung
19	chr9:117455200-117457400	Enhancers	NHEK	skin
20	chr9:117455600-117457200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:117455800-117457400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:117455800-117457600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:117455800-117457600	Enhancers	HSMM	muscle
24	chr9:117456000-117457200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:117456000-117457600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:117456000-117457600	Enhancers	NH-A	brain
27	chr9:117456200-117457600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:117456200-117460000	Weak transcription	Small Intestine	intestine
29	chr9:117456400-117457200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:117456600-117457400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:117456600-117457400	Enhancers	Osteobl	bone
32	chr9:117456800-117457200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:117457000-117457400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr9:117457000-117457600	Flanking Active TSS	GM12878-XiMat	blood
35	chr9:117457200-117457400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:117457200-117459000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:117457200-117459200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:117457200-117459200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:117457200-117459200	Weak transcription	NHLF	lung
40	chr9:117457400-117457600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:117457400-117458800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr9:117457400-117459200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:117457400-117459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:117457400-117459200	Weak transcription	NHEK	skin
45	chr9:117457400-117459200	Weak transcription	Osteobl	bone
46	chr9:117457400-117459600	Weak transcription	HSMMtube	muscle
47	chr9:117457600-117459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:117457600-117459000	Weak transcription	HSMM	muscle
49	chr9:117457600-117459000	Weak transcription	NHDF-Ad	bronchial
50	chr9:117457600-117459200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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