Variant report

Variant	nsv516723
Chromosome Location	chr9:117325008-117339241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:117333051-117333251	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:117336787-117336984	HepG2	liver:	n/a	n/a
3	ATF2	chr9:117334572-117334806	GM12878	blood:	n/a	n/a
4	ATF2	chr9:117328883-117329387	GM12878	blood:	n/a	n/a
5	BHLHE40	chr9:117328973-117329162	GM12878	blood:	n/a	n/a
6	CEBPB	chr9:117336734-117337090	MCF-7	breast:	n/a	chr9:117336909-117336920
7	CEBPB	chr9:117336647-117337134	HepG2	liver:	n/a	chr9:117336909-117336920
8	CEBPB	chr9:117336730-117337098	HepG2	liver:	n/a	chr9:117336909-117336920
9	CEBPB	chr9:117331895-117332088	K562	blood:	n/a	n/a
10	CEBPB	chr9:117336742-117337080	Hela-S3	cervix:	n/a	chr9:117336909-117336920
11	CEBPB	chr9:117336745-117337071	HepG2	liver:	n/a	chr9:117336909-117336920
12	CEBPB	chr9:117336772-117336994	HepG2	liver:	n/a	chr9:117336909-117336920
13	CEBPB	chr9:117336742-117336999	K562	blood:	n/a	chr9:117336909-117336920
14	CEBPB	chr9:117336748-117337050	IMR90	lung:	n/a	chr9:117336909-117336920
15	CEBPB	chr9:117336769-117336982	K562	blood:	n/a	chr9:117336909-117336920
16	CEBPD	chr9:117336796-117337022	HepG2	liver:	n/a	n/a
17	CTCF	chr9:117330629-117330734	GM13976	blood:	n/a	n/a
18	CTCF	chr9:117333814-117333865	Pancreas_OC	pancreas:	n/a	n/a
19	ELF1	chr9:117328812-117329148	GM12878	blood:	n/a	n/a
20	EP300	chr9:117336754-117337118	HepG2	liver:	n/a	n/a
21	EP300	chr9:117333067-117333376	HepG2	liver:	n/a	n/a
22	FAM48A	chr9:117329667-117329839	GM12878	blood:	n/a	n/a
23	FOS	chr9:117328651-117328680	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr9:117328536-117328652	MCF10A-Er-Src	breast:	n/a	n/a
25	FOXA1	chr9:117336701-117337105	HepG2	liver:	n/a	n/a
26	FOXA1	chr9:117336785-117337104	HepG2	liver:	n/a	n/a
27	FOXA1	chr9:117336668-117337142	HepG2	liver:	n/a	n/a
28	FOXA1	chr9:117336790-117337097	HepG2	liver:	n/a	n/a
29	FOXA2	chr9:117336757-117337077	HepG2	liver:	n/a	n/a
30	GTF3C2	chr9:117328646-117329024	Hela-S3	cervix:	n/a	n/a
31	HDAC2	chr9:117336784-117337061	HepG2	liver:	n/a	n/a
32	HDAC2	chr9:117336802-117337064	HepG2	liver:	n/a	n/a
33	HNF4A	chr9:117333006-117333335	HepG2	liver:	n/a	n/a
34	HNF4A	chr9:117336826-117337054	HepG2	liver:	n/a	n/a
35	HNF4A	chr9:117333057-117333363	HepG2	liver:	n/a	n/a
36	HNF4A	chr9:117338167-117338358	HepG2	liver:	n/a	chr9:117338266-117338281
37	JUND	chr9:117333094-117333301	HepG2	liver:	n/a	n/a
38	MEF2A	chr9:117328976-117329447	GM12878	blood:	n/a	chr9:117329124-117329138
39	MEF2A	chr9:117328869-117329373	GM12878	blood:	n/a	chr9:117329124-117329138
40	MYBL2	chr9:117336644-117337144	HepG2	liver:	n/a	n/a
41	NFIC	chr9:117328801-117329335	GM12878	blood:	n/a	n/a
42	PAX5	chr9:117328714-117329142	GM12878	blood:	n/a	chr9:117329032-117329049
43	PAX5	chr9:117328832-117329133	GM12878	blood:	n/a	chr9:117329032-117329049
44	PAX5	chr9:117328877-117329119	GM12878	blood:	n/a	chr9:117329032-117329049
45	PAX5	chr9:117328924-117329166	GM12891	blood:	n/a	chr9:117329032-117329049
46	PML	chr9:117328912-117329200	GM12878	blood:	n/a	n/a
47	RCOR1	chr9:117328977-117329131	GM12878	blood:	n/a	n/a
48	RUNX3	chr9:117328913-117329308	GM12878	blood:	n/a	n/a
49	RUNX3	chr9:117334534-117334823	GM12878	blood:	n/a	n/a
50	RUNX3	chr9:117328835-117329657	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117333105..117337028-chr9:117348080..117351758,7	MCF-7	breast:
2	chr9:117335405..117337699-chr9:117348254..117350000,2	MCF-7	breast:
3	chr9:117324281..117328199-chr9:117347808..117351256,4	MCF-7	breast:
4	chr9:117337677..117339649-chr9:117348465..117350054,2	K562	blood:
5	chr9:117330027..117332970-chr9:117349338..117350902,2	MCF-7	breast:
6	chr9:117337677..117339649-chr9:117348465..117350329,3	K562	blood:
7	chr9:117328512..117332998-chr9:117348525..117350861,3	MCF-7	breast:
8	chr9:117264950..117267639-chr9:117324246..117326958,2	MCF-7	breast:
9	chr9:117310558..117329379-chr9:117338511..117355772,81	MCF-7	breast:
10	chr9:117320420..117322663-chr9:117328857..117331686,3	MCF-7	breast:
11	chr9:117338490..117340087-chr9:117349759..117351512,2	MCF-7	breast:
12	chr9:117283025..117285928-chr9:117324373..117326931,2	MCF-7	breast:
13	chr9:117310558..117329379-chr9:117338511..117355772,81	MCF-7	breast:
14	chr9:117325943..117327526-chr9:117372695..117375114,2	MCF-7	breast:
15	chr9:117331475..117333647-chr9:117372964..117374645,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1G1-1	chr9:117335181-117335651	NONHSAT134384

No data

Variant related genes	Relation type
ENSG00000235797	TF binding region
ENSG00000238530	TF binding region
ENSG00000157693	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000095397	chromatin interactions
ENSG00000238530	chromatin interactions

Extended variants
information (count: 490 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:490 , 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	rs4979429	chr9:117325008-117325009	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147851154	chr9:117325036-117325037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112769090	chr9:117325096-117325097	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564308232	chr9:117325107-117325108	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs533218832	chr9:117325126-117325127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377117678	chr9:117325174-117325175	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184782421	chr9:117325200-117325201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562865813	chr9:117325215-117325216	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531765908	chr9:117325237-117325238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10982292	chr9:117325291-117325292	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148895755	chr9:117325294-117325295	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7851259	chr9:117325336-117325337	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs143454275	chr9:117325428-117325429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs570752492	chr9:117325445-117325446	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs115456226	chr9:117325463-117325464	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs112808685	chr9:117325465-117325466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556468672	chr9:117325471-117325472	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560015638	chr9:117325532-117325533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150927558	chr9:117325568-117325569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535070768	chr9:117325582-117325583	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533328645	chr9:117325620-117325621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377322821	chr9:117325637-117325638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140792846	chr9:117325703-117325704	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571999474	chr9:117325711-117325712	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs36021500	chr9:117325713-117325714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71367783	chr9:117325714-117325715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs202119181	chr9:117325721-117325722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144673380	chr9:117325748-117325749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs557655863	chr9:117325760-117325761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs78678576	chr9:117325788-117325789	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs80337158	chr9:117325792-117325793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563542393	chr9:117325834-117325835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs561532418	chr9:117325896-117325897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187991122	chr9:117325955-117325956	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529229132	chr9:117325963-117325964	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs12238440	chr9:117325999-117326000	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10759721	chr9:117326038-117326039	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527774634	chr9:117326077-117326078	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs10817640	chr9:117326083-117326084	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200794614	chr9:117326180-117326181	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs201913628	chr9:117326193-117326194	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs111984444	chr9:117326194-117326195	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112468133	chr9:117326195-117326196	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs145723126	chr9:117326196-117326197	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534721488	chr9:117326202-117326203	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs546544676	chr9:117326216-117326217	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs55723743	chr9:117326217-117326218	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571553436	chr9:117326222-117326223	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs570691258	chr9:117326245-117326246	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs575223212	chr9:117326333-117326334	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117321200-117326200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:117323000-117327400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr9:117326200-117326600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:117326600-117326800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:117326800-117327200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:117327400-117328400	Enhancers	Primary B cells from peripheral blood	blood
7	chr9:117327800-117330000	Enhancers	Primary B cells from cord blood	blood
8	chr9:117328400-117328800	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr9:117328400-117328800	Flanking Active TSS	GM12878-XiMat	blood
10	chr9:117328400-117328800	Enhancers	Hela-S3	cervix
11	chr9:117328600-117329400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr9:117328600-117329800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr9:117328800-117329400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:117328800-117330000	Enhancers	GM12878-XiMat	blood
15	chr9:117328800-117330600	Enhancers	Primary B cells from peripheral blood	blood
16	chr9:117329200-117329400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:117330000-117336800	Weak transcription	GM12878-XiMat	blood
18	chr9:117332200-117344000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:117332400-117334000	Enhancers	HepG2	liver
20	chr9:117334000-117336600	Weak transcription	HepG2	liver
21	chr9:117336400-117336600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:117336400-117337600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr9:117336400-117339000	Enhancers	Primary B cells from peripheral blood	blood
24	chr9:117336600-117337200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:117336600-117337200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:117336600-117337400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr9:117336600-117337600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr9:117336600-117338600	Enhancers	HepG2	liver
29	chr9:117336800-117337000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:117336800-117337200	Enhancers	Primary B cells from cord blood	blood
31	chr9:117336800-117337200	Enhancers	Adipose Nuclei	Adipose
32	chr9:117336800-117337200	Enhancers	GM12878-XiMat	blood
33	chr9:117337200-117338200	Weak transcription	GM12878-XiMat	blood
34	chr9:117337400-117338400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr9:117337600-117338400	Enhancers	Fetal Intestine Small	intestine
36	chr9:117337600-117339400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr9:117338000-117338200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:117338200-117338600	Enhancers	GM12878-XiMat	blood
39	chr9:117338200-117342400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:117338400-117338600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr9:117338600-117339000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:117338600-117342600	Weak transcription	HepG2	liver
43	chr9:117339000-117339400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:117339000-117339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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