Variant report

Variant	nsv525784
Chromosome Location	chr9:102036913-102037970
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	chr9:102037007..102039239-chr9:102065657..102068204,2	K562	blood:
2	chr9:102035628..102037347-chr9:102039745..102042261,2	K562	blood:

Variant related genes	Relation type
ENSG00000255815	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182762	chr9:102036913-102036914	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566566520	chr9:102036968-102036969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75766571	chr9:102036973-102036974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555051828	chr9:102036974-102036975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575523731	chr9:102036977-102036978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544149151	chr9:102036987-102036988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576200123	chr9:102037024-102037025	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs116247111	chr9:102037071-102037072	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577378344	chr9:102037137-102037138	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540333119	chr9:102037268-102037269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530080797	chr9:102037289-102037290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185177768	chr9:102037297-102037298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543044889	chr9:102037356-102037357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs188776504	chr9:102037369-102037370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532055663	chr9:102037376-102037377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115350993	chr9:102037381-102037382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571871584	chr9:102037382-102037383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527933689	chr9:102037386-102037387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181550022	chr9:102037394-102037395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113937754	chr9:102037478-102037479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189043	chr9:102037489-102037490	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535178921	chr9:102037506-102037507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78541590	chr9:102037525-102037526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72739301	chr9:102037534-102037535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538151007	chr9:102037539-102037540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141794074	chr9:102037569-102037570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386736744	chr9:102037572-102037573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs450698	chr9:102037577-102037578	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs374685274	chr9:102037587-102037588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191291	chr9:102037647-102037648	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553538021	chr9:102037663-102037664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs116627989	chr9:102037674-102037675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557174752	chr9:102037752-102037753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542728535	chr9:102037789-102037790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551226951	chr9:102037815-102037816	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs150119396	chr9:102037861-102037862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117035227	chr9:102037896-102037897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189265770	chr9:102037907-102037908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190670772	chr9:102037917-102037918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570227843	chr9:102037926-102037927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565615934	chr9:102037927-102037928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs138423382	chr9:102037947-102037948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548038581	chr9:102037965-102037966	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs10819643	chr9:102037970-102037971	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease

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
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
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102022200-102038000	Weak transcription	Aorta	Aorta
2	chr9:102034800-102037200	Enhancers	GM12878-XiMat	blood
3	chr9:102036400-102037000	Enhancers	Brain Cingulate Gyrus	brain
4	chr9:102036400-102037200	Enhancers	Brain Hippocampus Middle	brain
5	chr9:102036400-102037200	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr9:102036400-102037400	Enhancers	Brain Substantia Nigra	brain
7	chr9:102036600-102037200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:102036600-102037400	Enhancers	HepG2	liver
9	chr9:102036800-102037200	Enhancers	Brain Angular Gyrus	brain
10	chr9:102036800-102039800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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