Variant report

Variant	nsv972419
Chromosome Location	chr9:95438927-95440430
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	FOS	chr9:95439011-95439211	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFF	chr9:95440290-95440353	HepG2	liver:	n/a	chr9:95440311-95440329
3	MAFK	chr9:95440260-95440310	HepG2	liver:	n/a	n/a
4	MYC	chr9:95439060-95439172	K562	blood:	n/a	n/a
5	POLR2A	chr9:95439027-95439231	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr9:95439379-95439572	MCF10A-Er-Src	breast:	n/a	n/a
7	ZNF384	chr9:95439753-95439792	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95439856..95442869-chr9:95443168..95446358,4	MCF-7	breast:
2	chr9:95436301..95439240-chr9:95442495..95445475,2	K562	blood:
3	chr9:95440290..95443133-chr9:95467727..95470329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213669	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149433184	chr9:95438956-95438957	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574795553	chr9:95438991-95438992	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535854346	chr9:95439032-95439033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147447774	chr9:95439035-95439036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192658614	chr9:95439044-95439045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184311201	chr9:95439067-95439068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564703746	chr9:95439071-95439072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560887075	chr9:95439076-95439077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573498663	chr9:95439080-95439081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540783386	chr9:95439101-95439102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570967000	chr9:95439178-95439179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369631110	chr9:95439179-95439180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74312815	chr9:95439189-95439190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375196840	chr9:95439190-95439191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559407764	chr9:95439230-95439231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72756462	chr9:95439231-95439232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548212688	chr9:95439232-95439233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563114686	chr9:95439248-95439249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530745423	chr9:95439293-95439294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543999580	chr9:95439296-95439297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552066134	chr9:95439298-95439299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534966235	chr9:95439320-95439321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534515472	chr9:95439326-95439327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139893137	chr9:95439340-95439341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111920666	chr9:95439370-95439371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568582687	chr9:95439404-95439405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145424501	chr9:95439405-95439406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10821000	chr9:95439427-95439428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs575694158	chr9:95439471-95439472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539814232	chr9:95439512-95439513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190043710	chr9:95439581-95439582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558492402	chr9:95439582-95439583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577978107	chr9:95439596-95439597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540869212	chr9:95439617-95439618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181747003	chr9:95439656-95439657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574501843	chr9:95439658-95439659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80051601	chr9:95439713-95439714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563359479	chr9:95439776-95439777	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs377518042	chr9:95439799-95439800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34133988	chr9:95439800-95439801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539535847	chr9:95439801-95439802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530447797	chr9:95439803-95439804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200713267	chr9:95439817-95439818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545349444	chr9:95439840-95439841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147281023	chr9:95439865-95439866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7865118	chr9:95439897-95439898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs546820273	chr9:95439920-95439921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568141859	chr9:95439921-95439922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529423908	chr9:95439932-95439933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369559790	chr9:95439933-95439934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
overgrowth syndrome	16570072	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95433400-95442800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:95433800-95441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:95433800-95444000	Weak transcription	Fetal Brain Female	brain
4	chr9:95434000-95439200	Weak transcription	Primary T cells from cord blood	blood
5	chr9:95434000-95439200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:95434000-95439200	Weak transcription	Fetal Thymus	thymus
7	chr9:95434000-95439400	Weak transcription	HepG2	liver
8	chr9:95434000-95439800	Weak transcription	Brain Germinal Matrix	brain
9	chr9:95434000-95441800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:95434000-95441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:95434000-95442400	Weak transcription	NHDF-Ad	bronchial
12	chr9:95434200-95439400	Weak transcription	Right Atrium	heart
13	chr9:95434200-95441800	Weak transcription	Esophagus	oesophagus
14	chr9:95434200-95441800	Weak transcription	NHEK	skin
15	chr9:95434200-95442800	Weak transcription	Placenta	Placenta
16	chr9:95434400-95439200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:95436800-95439600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:95438600-95439600	Enhancers	K562	blood
19	chr9:95438800-95439000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:95439000-95440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:95439200-95439600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:95439200-95439600	Enhancers	Primary T cells from cord blood	blood
23	chr9:95439200-95439600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr9:95439200-95439800	Enhancers	Fetal Thymus	thymus
25	chr9:95439400-95439600	Enhancers	HepG2	liver
26	chr9:95439600-95439800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:95439600-95442200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:95439800-95441400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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