Variant report

Variant	nsv825060
Chromosome Location	chr9:117483259-117484487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117160409..117161990-chr9:117484451..117486830,2	MCF-7	breast:
2	chr9:117484334..117485876-chr9:117486430..117488556,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235119	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17237455	chr9:117483259-117483260	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569547843	chr9:117483265-117483266	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558187155	chr9:117483362-117483363	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558253012	chr9:117483397-117483398	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575346963	chr9:117483431-117483432	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544439880	chr9:117483464-117483465	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560911519	chr9:117483481-117483482	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370876269	chr9:117483515-117483516	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540507358	chr9:117483542-117483543	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181158358	chr9:117483555-117483556	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186655596	chr9:117483567-117483568	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7469763	chr9:117483622-117483623	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375702123	chr9:117483646-117483647	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74614840	chr9:117483666-117483667	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551909004	chr9:117483680-117483681	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62581173	chr9:117483690-117483691	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557676970	chr9:117483691-117483692	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556791509	chr9:117483721-117483722	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147982523	chr9:117483758-117483759	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576019408	chr9:117483799-117483800	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551188614	chr9:117483804-117483805	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140663870	chr9:117483850-117483851	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536798630	chr9:117483881-117483882	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7026324	chr9:117483943-117483944	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs553217160	chr9:117483962-117483963	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566138695	chr9:117484038-117484039	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189761647	chr9:117484039-117484040	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558125708	chr9:117484049-117484050	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150118381	chr9:117484081-117484082	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545626020	chr9:117484167-117484168	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537524335	chr9:117484285-117484286	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138707293	chr9:117484286-117484287	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574514849	chr9:117484292-117484293	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144021111	chr9:117484308-117484309	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547738479	chr9:117484328-117484329	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147294684	chr9:117484360-117484361	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139391069	chr9:117484387-117484388	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573343567	chr9:117484434-117484435	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540747118	chr9:117484460-117484461	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs180995064	chr9:117484466-117484467	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545460339	chr9:117484487-117484488	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117479000-117484200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr9:117480200-117485000	Enhancers	HMEC	breast
3	chr9:117480400-117483600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:117480400-117484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:117480400-117485000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:117480600-117484800	Enhancers	NHEK	skin
7	chr9:117481000-117484400	Enhancers	Esophagus	oesophagus
8	chr9:117481200-117484200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:117481200-117486000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:117481400-117488800	Enhancers	NHDF-Ad	bronchial
11	chr9:117481600-117485600	Weak transcription	NH-A	brain
12	chr9:117481800-117483600	Enhancers	HepG2	liver
13	chr9:117481800-117483800	Enhancers	Hela-S3	cervix
14	chr9:117482000-117484400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:117482200-117483400	Enhancers	Fetal Muscle Leg	muscle
16	chr9:117482200-117484000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:117482400-117484400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:117482400-117484400	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:117482600-117483800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:117482600-117487000	Enhancers	Osteobl	bone
21	chr9:117483400-117484400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr9:117483400-117484600	Enhancers	Liver	Liver
23	chr9:117483400-117484600	Enhancers	Fetal Intestine Small	intestine
24	chr9:117483400-117484800	Enhancers	Fetal Intestine Large	intestine
25	chr9:117483600-117484000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:117483600-117484000	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr9:117483600-117484000	Enhancers	Stomach Mucosa	stomach
28	chr9:117483600-117484000	Flanking Active TSS	HepG2	liver
29	chr9:117483600-117488800	Enhancers	NHLF	lung
30	chr9:117483800-117484000	Flanking Active TSS	Hela-S3	cervix
31	chr9:117483800-117484200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:117483800-117484200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:117483800-117484400	Enhancers	A549	lung
34	chr9:117484000-117484200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:117484000-117484200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:117484000-117484200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:117484000-117484200	Enhancers	Hela-S3	cervix
38	chr9:117484000-117484200	Enhancers	HepG2	liver
39	chr9:117484000-117484400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:117484000-117485000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:117484000-117486400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:117484200-117484400	Bivalent Enhancer	Adipose Nuclei	Adipose
43	chr9:117484200-117484400	Flanking Active TSS	Hela-S3	cervix
44	chr9:117484200-117484600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:117484200-117484600	Flanking Active TSS	HepG2	liver
46	chr9:117484200-117485000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:117484200-117485400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
48	chr9:117484400-117484800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:117484400-117485000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr9:117484400-117485400	Weak transcription	Esophagus	oesophagus

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