Variant report

Variant	esv3356472
Chromosome Location	chr9:96677831-96682029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
2	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
3	chr9:96676732..96679654-chr9:96681245..96683320,2	MCF-7	breast:
4	chr9:96670566..96673928-chr9:96676412..96679551,4	K562	blood:
5	chr9:96675737..96678225-chr9:96714280..96716510,2	MCF-7	breast:
6	chr9:96678251..96680846-chr9:96690063..96691952,2	MCF-7	breast:
7	chr9:96673909..96678084-chr9:96678410..96682250,3	K562	blood:
8	chr9:96666033..96667879-chr9:96676753..96678543,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131668	chromatin interactions

Extended variants
information (count: 220 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543095424	chr9:96677908-96677909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564790968	chr9:96677987-96677988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543224246	chr9:96678008-96678009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375606394	chr9:96678018-96678019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116939604	chr9:96678039-96678040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4744300	chr9:96678078-96678079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559309345	chr9:96678120-96678121	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530406396	chr9:96678126-96678127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs540931724	chr9:96678128-96678129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371970251	chr9:96678160-96678161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570241034	chr9:96678166-96678167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10992974	chr9:96678178-96678179	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs187736338	chr9:96678253-96678254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570831266	chr9:96678278-96678279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192144600	chr9:96678284-96678285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553054129	chr9:96678311-96678312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184189441	chr9:96678314-96678315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188595581	chr9:96678337-96678338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554474195	chr9:96678344-96678345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192976278	chr9:96678360-96678361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13292099	chr9:96678382-96678383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543181441	chr9:96678400-96678401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575392393	chr9:96678408-96678409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551747894	chr9:96678436-96678437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534498854	chr9:96678443-96678444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371409484	chr9:96678498-96678499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs202153489	chr9:96678535-96678536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200440840	chr9:96678550-96678551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386736397	chr9:96678554-96678555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78835040	chr9:96678558-96678559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375998178	chr9:96678559-96678560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558718607	chr9:96678570-96678571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200404090	chr9:96678583-96678584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536292664	chr9:96678591-96678592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71366203	chr9:96678594-96678595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201524205	chr9:96678595-96678596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541160226	chr9:96678615-96678616	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149829263	chr9:96678648-96678649	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529742800	chr9:96678671-96678672	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542526093	chr9:96678681-96678682	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563937573	chr9:96678742-96678743	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540259176	chr9:96678757-96678758	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530985019	chr9:96678765-96678766	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12346731	chr9:96678776-96678777	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112979835	chr9:96678788-96678789	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184652302	chr9:96678800-96678801	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528569266	chr9:96678827-96678828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547121481	chr9:96678833-96678834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10992975	chr9:96678899-96678900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10992976	chr9:96678904-96678905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Effusion lymphoma	18079361	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96671400-96679600	Weak transcription	Gastric	stomach
2	chr9:96675200-96678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:96676200-96678600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:96677000-96685200	Weak transcription	Spleen	Spleen
5	chr9:96678400-96679000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:96678600-96678800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr9:96679000-96680000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:96679000-96682600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:96679600-96680200	Enhancers	Gastric	stomach
10	chr9:96679800-96680200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
11	chr9:96679800-96682400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:96680200-96687200	Weak transcription	Gastric	stomach
13	chr9:96681400-96690600	Weak transcription	Right Atrium	heart

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