Variant report

Variant	nsv933375
Chromosome Location	chr9:94485207-94485904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94422471..94424892-chr9:94484558..94488094,3	MCF-7	breast:
2	chr9:94484405..94487196-chr9:94488976..94490889,3	K562	blood:
3	chr9:94484329..94487574-chr9:94487693..94490602,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73654047	chr9:94485208-94485209	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1135150	chr9:94485232-94485233	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs114631492	chr9:94485243-94485244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571058325	chr9:94485386-94485387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538313011	chr9:94485387-94485388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183976182	chr9:94485407-94485408	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147339603	chr9:94485423-94485424	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367760102	chr9:94485424-94485425	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139503052	chr9:94485462-94485463	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145119348	chr9:94485468-94485469	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199931228	chr9:94485477-94485478	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537489134	chr9:94485501-94485502	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558944133	chr9:94485533-94485534	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542218056	chr9:94485547-94485548	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373945763	chr9:94485553-94485554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555728388	chr9:94485575-94485576	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77664658	chr9:94485699-94485700	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76518734	chr9:94485708-94485709	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75004227	chr9:94485715-94485716	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574961877	chr9:94485721-94485722	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575596029	chr9:94485732-94485733	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371504995	chr9:94485753-94485754	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542396423	chr9:94485764-94485765	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201277426	chr9:94485767-94485768	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140581955	chr9:94485769-94485770	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76954158	chr9:94485771-94485772	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563682786	chr9:94485822-94485823	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189697737	chr9:94485837-94485838	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531108921	chr9:94485838-94485839	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549371324	chr9:94485852-94485853	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561004430	chr9:94485882-94485883	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373798516	chr9:94485903-94485904	Weak transcription Strong transcription Genic 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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94458000-94489800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:94474200-94486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:94476400-94485400	Weak transcription	Fetal Lung	lung
4	chr9:94477000-94487000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:94477200-94489800	Weak transcription	Right Atrium	heart
6	chr9:94477200-94496800	Weak transcription	NHLF	lung
7	chr9:94477200-94533000	Weak transcription	Fetal Kidney	kidney
8	chr9:94482400-94491600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:94483000-94496600	Strong transcription	Fetal Stomach	stomach
10	chr9:94483400-94486000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr9:94483400-94486800	Strong transcription	Colon Smooth Muscle	Colon
12	chr9:94483400-94489800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:94483400-94501600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:94483600-94487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:94483600-94504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:94483600-94519400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:94483800-94485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:94483800-94485800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:94483800-94486200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr9:94483800-94489400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:94484000-94485600	Weak transcription	Spleen	Spleen
22	chr9:94484200-94486000	Weak transcription	Esophagus	oesophagus
23	chr9:94484200-94489200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:94484400-94486800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:94484400-94487000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:94484400-94487000	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:94484400-94488200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:94484400-94488400	Strong transcription	Fetal Intestine Large	intestine
29	chr9:94484400-94489000	Strong transcription	Gastric	stomach
30	chr9:94484400-94489400	Strong transcription	Fetal Intestine Small	intestine
31	chr9:94484600-94485400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:94484600-94487400	Weak transcription	K562	blood
33	chr9:94484600-94488600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:94484600-94488800	Weak transcription	Placenta	Placenta
35	chr9:94484600-94489000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:94484600-94489000	Strong transcription	Ovary	ovary
37	chr9:94484800-94486400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:94484800-94487600	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr9:94485000-94486600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:94485000-94489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:94485200-94487000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:94485400-94485800	Strong transcription	Fetal Lung	lung
43	chr9:94485400-94486200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:94485400-94489000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:94485600-94487200	Strong transcription	Spleen	Spleen
46	chr9:94485600-94491600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr9:94485800-94487400	Weak transcription	Fetal Lung	lung
48	chr9:94485800-94487800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:94485800-94498400	Weak transcription	Fetal Muscle Leg	muscle

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