Variant report

Variant	esv3325750
Chromosome Location	chr9:101090308-101093680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101090185..101092371-chr9:101101183..101103989,2	MCF-7	breast:
2	chr9:101087150..101090422-chr9:101102751..101107163,4	K562	blood:
3	chr9:101086196..101088017-chr9:101089801..101091987,3	K562	blood:
4	chr9:101001678..101003268-chr9:101092460..101094630,2	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201761980	chr9:101090310-101090311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200210095	chr9:101090311-101090312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75626946	chr9:101090316-101090317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112724221	chr9:101090351-101090352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569220589	chr9:101090415-101090416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34467219	chr9:101090442-101090443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564381966	chr9:101090477-101090478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139920351	chr9:101090483-101090484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551757359	chr9:101090554-101090555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571669877	chr9:101090555-101090556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564525915	chr9:101090558-101090559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534005927	chr9:101090621-101090622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542692463	chr9:101090645-101090646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573477269	chr9:101090685-101090686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182532652	chr9:101090699-101090700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117169699	chr9:101090708-101090709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368273524	chr9:101090734-101090735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567746852	chr9:101090747-101090748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370468386	chr9:101090748-101090749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73657140	chr9:101090750-101090751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556578146	chr9:101090751-101090752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80166509	chr9:101090752-101090753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545306173	chr9:101090762-101090763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557285371	chr9:101090781-101090782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531588996	chr9:101090919-101090920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577241783	chr9:101090949-101090950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562095012	chr9:101090969-101090970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539915680	chr9:101091030-101091031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543662276	chr9:101091031-101091032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560220727	chr9:101091042-101091043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529075311	chr9:101091103-101091104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542846721	chr9:101091120-101091121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561698905	chr9:101091122-101091123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531587368	chr9:101091136-101091137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187280688	chr9:101091142-101091143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571631134	chr9:101091222-101091223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192162815	chr9:101091227-101091228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184649089	chr9:101091264-101091265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567797370	chr9:101091278-101091279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536440458	chr9:101091314-101091315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556299552	chr9:101091347-101091348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16914928	chr9:101091374-101091375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190498592	chr9:101091375-101091376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149403827	chr9:101091464-101091465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367843618	chr9:101091470-101091471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540269199	chr9:101091478-101091479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144749411	chr9:101091516-101091517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573639421	chr9:101091519-101091520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139964878	chr9:101091526-101091527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551324105	chr9:101091541-101091542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101085600-101093800	Weak transcription	Lung	lung
2	chr9:101086800-101091400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:101087200-101090400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:101087200-101090400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:101087200-101091200	Weak transcription	NHLF	lung
6	chr9:101087200-101093800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:101087200-101094000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:101087400-101091200	Weak transcription	HMEC	breast
9	chr9:101087400-101091200	Weak transcription	NHEK	skin
10	chr9:101087400-101091400	Weak transcription	NHDF-Ad	bronchial
11	chr9:101087400-101091600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:101087400-101091600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:101087400-101096000	Weak transcription	Osteobl	bone
14	chr9:101087400-101096400	Weak transcription	NH-A	brain
15	chr9:101089000-101090400	Weak transcription	HUVEC	blood vessel
16	chr9:101089000-101091000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:101089000-101096000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:101089600-101093200	Weak transcription	K562	blood
19	chr9:101090400-101091200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:101090400-101094200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:101090400-101098400	Enhancers	HUVEC	blood vessel
22	chr9:101090800-101091200	Enhancers	Primary B cells from peripheral blood	blood
23	chr9:101091000-101095400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:101091200-101091400	Enhancers	NHLF	lung
25	chr9:101091200-101092200	Enhancers	HMEC	breast
26	chr9:101091200-101092200	Enhancers	NHEK	skin
27	chr9:101091200-101095200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:101091400-101091800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:101091400-101091800	Weak transcription	NHLF	lung
30	chr9:101091400-101092000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:101091400-101094400	Enhancers	NHDF-Ad	bronchial
32	chr9:101091600-101092000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:101091600-101093400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:101091800-101092000	Enhancers	NHLF	lung
35	chr9:101091800-101092600	Enhancers	Fetal Intestine Large	intestine
36	chr9:101091800-101092600	Enhancers	Fetal Intestine Small	intestine
37	chr9:101092000-101092800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:101092000-101093800	Weak transcription	NHLF	lung
39	chr9:101092000-101096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:101092200-101095800	Weak transcription	HMEC	breast
41	chr9:101092600-101097000	Weak transcription	Fetal Intestine Large	intestine
42	chr9:101093000-101093200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:101093200-101094400	Enhancers	Stomach Smooth Muscle	stomach
44	chr9:101093200-101094600	Enhancers	K562	blood
45	chr9:101093400-101093800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:101093600-101094200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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