Variant report

Variant	nsv6657
Chromosome Location	chr9:110533206-110545471
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr9:110535281-110535671	K562	blood:	n/a	n/a
2	CBX3	chr9:110535329-110535592	K562	blood:	n/a	n/a
3	CEBPB	chr9:110542174-110542340	A549	lung:	n/a	chr9:110542259-110542272 chr9:110542261-110542272 chr9:110542259-110542270
4	CEBPB	chr9:110542160-110542341	HepG2	liver:	n/a	chr9:110542259-110542272 chr9:110542261-110542272 chr9:110542259-110542270
5	CEBPB	chr9:110545076-110545325	K562	blood:	n/a	n/a
6	CEBPB	chr9:110545169-110545399	K562	blood:	n/a	n/a
7	CTCF	chr9:110534004-110534060	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr9:110533940-110534090	GM12872	blood:	n/a	n/a
9	EP300	chr9:110545164-110545373	K562	blood:	n/a	n/a
10	GATA3	chr9:110533023-110533384	T-47D	breast:	n/a	n/a
11	GATA3	chr9:110532902-110533456	MCF-7	breast:	n/a	chr9:110533417-110533426
12	GATA3	chr9:110533092-110533385	MCF-7	breast:	n/a	n/a
13	GATA3	chr9:110532689-110533668	MCF-7	breast:	n/a	chr9:110533417-110533426
14	JUND	chr9:110545217-110545690	K562	blood:	n/a	n/a
15	KAP1	chr9:110535273-110535729	HEK293	kidney:	n/a	n/a
16	KAP1	chr9:110535294-110535879	K562	blood:	n/a	n/a
17	MAX	chr9:110536508-110536662	NB4	blood:	n/a	n/a
18	MYC	chr9:110534000-110534100	GM12878	blood:	n/a	n/a
19	MYC	chr9:110545243-110545575	K562	blood:	n/a	n/a
20	NR2F2	chr9:110540153-110540493	K562	blood:	n/a	n/a
21	NR2F2	chr9:110532972-110533409	MCF-7	breast:	n/a	n/a
22	NR2F2	chr9:110540186-110540516	K562	blood:	n/a	n/a
23	RCOR1	chr9:110544726-110545413	K562	blood:	n/a	n/a
24	SETDB1	chr9:110535316-110535965	U2OS	brain:	n/a	n/a
25	SP1	chr9:110540310-110540415	HepG2	liver:	n/a	n/a
26	SPI1	chr9:110545180-110545400	HL-60	blood:	n/a	n/a
27	SPI1	chr9:110536416-110536777	GM12891	blood:	n/a	n/a
28	SPI1	chr9:110545119-110545375	K562	blood:	n/a	n/a
29	SPI1	chr9:110536454-110536690	GM12878	blood:	n/a	n/a
30	SPI1	chr9:110545103-110545472	HL-60	blood:	n/a	n/a
31	SPI1	chr9:110545140-110545332	GM12878	blood:	n/a	n/a
32	SPI1	chr9:110536214-110536875	GM12878	blood:	n/a	n/a
33	SPI1	chr9:110536406-110536832	HL-60	blood:	n/a	n/a
34	SPI1	chr9:110536308-110536966	HL-60	blood:	n/a	n/a
35	SPI1	chr9:110536544-110536652	GM12878	blood:	n/a	n/a
36	STAT3	chr9:110544909-110544956	MCF10A-Er-Src	breast:	n/a	n/a
37	TBL1XR1	chr9:110545206-110545605	K562	blood:	n/a	n/a
38	TEAD4	chr9:110544812-110545412	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110536599..110538792-chr9:110539392..110541157,4	MCF-7	breast:
2	chr9:110250527..110252695-chr9:110535045..110537861,2	MCF-7	breast:
3	chr9:110517453..110520305-chr9:110540902..110543494,2	MCF-7	breast:
4	chr9:110512265..110514860-chr9:110532289..110535140,2	K562	blood:
5	chr5:152943165..152943845-chr9:110532448..110533316,2	MCF-7	breast:
6	chr9:110531111..110532884-chr9:110541979..110544969,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214645	TF binding region
ENSG00000214645	chromatin interactions
ENSG00000136826	chromatin interactions

Extended variants
information (count: 355 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551306701	chr9:110533267-110533268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569810217	chr9:110533348-110533349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75577964	chr9:110533349-110533350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147776429	chr9:110533367-110533368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566972469	chr9:110533406-110533407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547031187	chr9:110533426-110533427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534323689	chr9:110533427-110533428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555902137	chr9:110533469-110533470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187450803	chr9:110533474-110533475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34230206	chr9:110533523-110533524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571624306	chr9:110533524-110533525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4636259	chr9:110533606-110533607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117851014	chr9:110533686-110533687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148896498	chr9:110533719-110533720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7042582	chr9:110533744-110533745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541409081	chr9:110533749-110533750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553142069	chr9:110533777-110533778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542800036	chr9:110533831-110533832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555048662	chr9:110533863-110533864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567291990	chr9:110533864-110533865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573334596	chr9:110533889-110533890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59322453	chr9:110533904-110533905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142724437	chr9:110533938-110533939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150980855	chr9:110533957-110533958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569865001	chr9:110533976-110533977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545270719	chr9:110533977-110533978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563379007	chr9:110533978-110533979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7028227	chr9:110534010-110534011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs367731326	chr9:110534018-110534019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140853935	chr9:110534019-110534020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548859684	chr9:110534126-110534127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567034631	chr9:110534158-110534159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527643049	chr9:110534172-110534173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540316455	chr9:110534206-110534207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79049433	chr9:110534248-110534249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539000018	chr9:110534273-110534274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557629565	chr9:110534276-110534277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563873504	chr9:110534325-110534326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150140972	chr9:110534336-110534337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531010871	chr9:110534371-110534372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541056711	chr9:110534453-110534454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182845376	chr9:110534457-110534458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573393240	chr9:110534468-110534469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115694707	chr9:110534471-110534472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56205372	chr9:110534477-110534478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs118164682	chr9:110534545-110534546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188208126	chr9:110534553-110534554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141374230	chr9:110534563-110534564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563606140	chr9:110534578-110534579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370126464	chr9:110534579-110534580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110518200-110544600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:110523200-110535200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:110533000-110534000	Weak transcription	Placenta	Placenta
4	chr9:110534000-110534200	Enhancers	Placenta	Placenta
5	chr9:110535200-110535800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:110536200-110537000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr9:110536200-110537200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr9:110536400-110536600	Enhancers	Spleen	Spleen
9	chr9:110536600-110537000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr9:110536600-110546600	Weak transcription	Spleen	Spleen
11	chr9:110537000-110540800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:110537200-110542000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr9:110540600-110541600	Enhancers	Fetal Muscle Leg	muscle
14	chr9:110540800-110541000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr9:110540800-110541200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:110540800-110541200	Enhancers	HSMM	muscle
17	chr9:110541000-110541400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr9:110541200-110543600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:110541200-110544800	Weak transcription	HSMM	muscle
20	chr9:110541400-110547400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr9:110541600-110544200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:110542000-110544800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr9:110542000-110547400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr9:110543200-110543600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:110543200-110544200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:110543600-110547800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:110544000-110544600	Enhancers	NHDF-Ad	bronchial
28	chr9:110544200-110545200	Enhancers	HSMMtube	muscle
29	chr9:110544200-110546000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:110544200-110548000	Enhancers	Fetal Muscle Leg	muscle
31	chr9:110544200-110549200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:110544600-110545000	Enhancers	Primary B cells from cord blood	blood
33	chr9:110544600-110545000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr9:110544600-110545200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:110544600-110545200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:110544600-110545200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:110544600-110545200	Enhancers	Osteobl	bone
38	chr9:110544600-110545400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:110544600-110545400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:110544600-110545800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:110544600-110546000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr9:110544600-110546200	Enhancers	K562	blood
43	chr9:110544800-110545000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:110544800-110545000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr9:110544800-110545000	Enhancers	Left Ventricle	heart
46	chr9:110544800-110545000	Enhancers	Lung	lung
47	chr9:110544800-110545000	Enhancers	Ovary	ovary
48	chr9:110544800-110545000	Enhancers	Psoas Muscle	Psoas
49	chr9:110544800-110545000	Enhancers	NHLF	lung
50	chr9:110544800-110545200	Enhancers	Liver	Liver

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