Variant report

Variant	esv3356278
Chromosome Location	chr9:101153231-101157729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101151415..101154208-chr9:101160547..101163160,3	K562	blood:
2	chr9:101156357..101157918-chr9:101159602..101161202,2	MCF-7	breast:
3	chr9:101141985..101144265-chr9:101150163..101153760,3	K562	blood:
4	chr9:101138177..101140761-chr9:101153735..101155417,2	K562	blood:
5	chr9:101157213..101157948-chr9:101165711..101166553,2	MCF-7	breast:
6	chr9:101136620..101139249-chr9:101156990..101158557,2	K562	blood:

Extended variants
information (count: 210 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10760298	chr9:101153301-101153302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562302482	chr9:101153309-101153310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189196226	chr9:101153315-101153316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181139289	chr9:101153334-101153335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571039824	chr9:101153422-101153423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533723521	chr9:101153447-101153448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73655428	chr9:101153544-101153545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs59794392	chr9:101153545-101153546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567550842	chr9:101153568-101153569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7042831	chr9:101153628-101153629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563925479	chr9:101153674-101153675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556431631	chr9:101153701-101153702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576325690	chr9:101153715-101153716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138015179	chr9:101153741-101153742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12006182	chr9:101153752-101153753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572610981	chr9:101153759-101153760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575920347	chr9:101153763-101153764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143476717	chr9:101153793-101153794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150111081	chr9:101153823-101153824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574986698	chr9:101153859-101153860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561845163	chr9:101154034-101154035	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138413964	chr9:101154122-101154123	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564030448	chr9:101154140-101154141	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531186648	chr9:101154204-101154205	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7046871	chr9:101154211-101154212	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564629003	chr9:101154246-101154247	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115606944	chr9:101154254-101154255	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547095993	chr9:101154410-101154411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs567311154	chr9:101154465-101154466	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs144859099	chr9:101154467-101154468	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs535923783	chr9:101154509-101154510	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs549780994	chr9:101154530-101154531	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs569965443	chr9:101154537-101154538	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs57298260	chr9:101154558-101154559	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139741651	chr9:101154582-101154583	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs186487721	chr9:101154584-101154585	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs17696686	chr9:101154649-101154650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533302704	chr9:101154650-101154651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555060292	chr9:101154671-101154672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76233365	chr9:101154719-101154720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544023380	chr9:101154739-101154740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188979965	chr9:101154741-101154742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181743572	chr9:101154742-101154743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569571692	chr9:101154754-101154755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544602394	chr9:101154800-101154801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75181764	chr9:101154814-101154815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116933352	chr9:101154913-101154914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62574570	chr9:101154914-101154915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149604123	chr9:101154936-101154937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111724017	chr9:101154952-101154953	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101128200-101164200	Weak transcription	Brain Germinal Matrix	brain
2	chr9:101129000-101156000	Weak transcription	Fetal Brain Female	brain
3	chr9:101143200-101156000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:101143200-101157000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr9:101144000-101172000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:101149000-101153800	Weak transcription	Primary B cells from cord blood	blood
7	chr9:101149800-101158600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:101150400-101157800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:101151000-101153600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr9:101152000-101156200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:101153600-101154200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:101153600-101154400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr9:101153600-101154800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:101153600-101155000	Enhancers	Primary B cells from peripheral blood	blood
15	chr9:101153800-101154200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:101153800-101154400	Enhancers	NHEK	skin
17	chr9:101153800-101154600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr9:101153800-101154600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr9:101153800-101155000	Enhancers	Primary B cells from cord blood	blood
20	chr9:101153800-101155000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:101154000-101154400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:101154000-101154400	Enhancers	Primary hematopoietic stem cells	blood
23	chr9:101154000-101154400	Enhancers	Lung	lung
24	chr9:101154000-101154400	Enhancers	Spleen	Spleen
25	chr9:101154000-101154400	Enhancers	HMEC	breast
26	chr9:101154000-101154600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr9:101154000-101154600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr9:101154000-101154600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr9:101154000-101154600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:101154000-101154600	Enhancers	HUVEC	blood vessel
31	chr9:101154000-101154800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr9:101154200-101154400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:101154200-101154400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr9:101155000-101157800	Weak transcription	Primary B cells from cord blood	blood
35	chr9:101155000-101157800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr9:101156000-101156400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:101156000-101156600	Strong transcription	Fetal Brain Female	brain
38	chr9:101156200-101156600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:101156400-101159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:101156600-101172000	Weak transcription	Fetal Brain Female	brain
41	chr9:101157600-101158000	Enhancers	Spleen	Spleen

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