Variant report

Variant	nsv932872
Chromosome Location	chr9:94499505-94499830
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94497979..94500430-chr9:94500591..94503129,2	K562	blood:
2	chr9:94497499..94499840-chr9:94505365..94508110,2	MCF-7	breast:
3	chr9:94493263..94495550-chr9:94497375..94499893,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112610313	chr9:94499510-94499511	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10992073	chr9:94499519-94499520	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs567123656	chr9:94499525-94499526	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79279453	chr9:94499540-94499541	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75007058	chr9:94499541-94499542	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534650781	chr9:94499609-94499610	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7855522	chr9:94499618-94499619	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs121909086	chr9:94499682-94499683	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150680684	chr9:94499704-94499705	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35050720	chr9:94499711-94499712	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34574788	chr9:94499727-94499728	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199975149	chr9:94499730-94499731	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs121909084	chr9:94499745-94499746	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553341457	chr9:94499757-94499758	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377228797	chr9:94499763-94499764	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147616624	chr9:94499770-94499771	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16907720	chr9:94499797-94499798	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1135179	chr9:94499800-94499801	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374007114	chr9:94499826-94499827	Weak transcription Strong transcription Enhancers	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	21364760	CNVD
overgrowth syndrome	16570072	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
2	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:94486200-94521000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:94486800-94517400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:94487000-94502200	Weak transcription	Esophagus	oesophagus
8	chr9:94487000-94535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr9:94489000-94508800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:94490400-94521000	Weak transcription	Right Atrium	heart
11	chr9:94491600-94501000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:94493200-94517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:94495000-94501800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:94496400-94499800	Strong transcription	K562	blood
15	chr9:94496600-94499800	Strong transcription	Fetal Lung	lung
16	chr9:94497200-94499600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:94497200-94502400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:94497200-94502400	Weak transcription	Spleen	Spleen
19	chr9:94497200-94502600	Strong transcription	Fetal Stomach	stomach
20	chr9:94497400-94503000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:94497600-94499800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr9:94497600-94503000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:94498200-94499800	Strong transcription	Fetal Intestine Small	intestine
24	chr9:94498200-94499800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr9:94498400-94499800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:94498400-94499800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:94498400-94499800	Genic enhancers	Colon Smooth Muscle	Colon
28	chr9:94498400-94499800	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:94498400-94499800	Strong transcription	Fetal Muscle Leg	muscle
30	chr9:94498400-94499800	Strong transcription	Gastric	stomach
31	chr9:94498400-94499800	Strong transcription	Ovary	ovary
32	chr9:94498400-94500400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:94498800-94499600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:94499400-94509400	Weak transcription	Fetal Intestine Large	intestine
35	chr9:94499600-94500400	Enhancers	Rectal Smooth Muscle	rectum
36	chr9:94499600-94517200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:94499800-94502200	Weak transcription	Fetal Intestine Small	intestine
38	chr9:94499800-94502200	Weak transcription	Fetal Lung	lung
39	chr9:94499800-94502400	Weak transcription	Ovary	ovary
40	chr9:94499800-94503000	Weak transcription	Fetal Muscle Leg	muscle
41	chr9:94499800-94503000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr9:94499800-94503200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:94499800-94503200	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:94499800-94508800	Weak transcription	K562	blood
45	chr9:94499800-94517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:94499800-94520400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:94499800-94522800	Weak transcription	Gastric	stomach
48	chr9:94499800-94523200	Weak transcription	Placenta Amnion	Placenta Amnion

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