Variant report

Variant	esv3389689
Chromosome Location	chr15:87518248-87521846
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	chr15:87519920..87521707-chr15:87531872..87533377,2	K562	blood:

Extended variants
information (count: 177 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530070987	chr15:87518292-87518293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74025724	chr15:87518325-87518326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186542789	chr15:87518341-87518342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192075280	chr15:87518342-87518343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150688067	chr15:87518344-87518345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72757463	chr15:87518351-87518352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572785592	chr15:87518361-87518362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538030322	chr15:87518369-87518370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550727516	chr15:87518416-87518417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78567271	chr15:87518424-87518425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139588657	chr15:87518435-87518436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536274296	chr15:87518438-87518439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554560994	chr15:87518477-87518478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139699361	chr15:87518479-87518480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534140859	chr15:87518530-87518531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72757465	chr15:87518567-87518568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115700281	chr15:87518578-87518579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72757466	chr15:87518586-87518587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141926566	chr15:87518592-87518593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146333767	chr15:87518594-87518595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114707495	chr15:87518615-87518616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527681709	chr15:87518644-87518645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546501993	chr15:87518646-87518647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181162727	chr15:87518661-87518662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531945979	chr15:87518671-87518672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550367082	chr15:87518678-87518679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185598606	chr15:87518679-87518680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116587846	chr15:87518687-87518688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548299827	chr15:87518690-87518691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566511151	chr15:87518696-87518697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200118526	chr15:87518744-87518745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533533374	chr15:87518754-87518755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558847511	chr15:87518757-87518758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2082537	chr15:87518758-87518759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12591723	chr15:87518787-87518788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139576874	chr15:87518805-87518806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555899260	chr15:87518820-87518821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189616658	chr15:87518821-87518822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11853178	chr15:87518851-87518852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553953854	chr15:87518866-87518867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28513692	chr15:87518868-87518869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567576974	chr15:87518876-87518877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72757467	chr15:87518892-87518893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2082538	chr15:87518912-87518913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs72757468	chr15:87518919-87518920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs138431201	chr15:87518956-87518957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531190474	chr15:87518966-87518967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114868524	chr15:87518990-87518991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10438425	chr15:87518995-87518996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529509966	chr15:87519034-87519035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Spondylocostal dysostosis	21085971	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:87516400-87521400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:87521400-87521800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:87521800-87540600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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