Variant report

Variant	esv18484
Chromosome Location	chr15:54490191-54496351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534896174	chr15:54490196-54490197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148445383	chr15:54490208-54490209	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28576113	chr15:54490212-54490213	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190714816	chr15:54490274-54490275	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535972810	chr15:54490329-54490330	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111800298	chr15:54490334-54490335	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111314817	chr15:54490335-54490336	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12050642	chr15:54490336-54490337	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576031354	chr15:54490353-54490354	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182543673	chr15:54490374-54490375	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187094104	chr15:54490407-54490408	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572207418	chr15:54490433-54490434	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551551185	chr15:54490442-54490443	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550123676	chr15:54490450-54490451	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34584267	chr15:54490520-54490521	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541243744	chr15:54490576-54490577	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561037553	chr15:54490579-54490580	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114193407	chr15:54490626-54490627	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543973350	chr15:54490631-54490632	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112093902	chr15:54490636-54490637	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532540344	chr15:54490637-54490638	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552244948	chr15:54490665-54490666	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560009240	chr15:54490695-54490696	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528729807	chr15:54490708-54490709	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548453523	chr15:54490751-54490752	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568352857	chr15:54490762-54490763	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12440297	chr15:54490772-54490773	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549897803	chr15:54490793-54490794	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141705161	chr15:54490794-54490795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538639211	chr15:54490804-54490805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532395998	chr15:54490817-54490818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192963290	chr15:54490824-54490825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150536176	chr15:54490826-54490827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369007758	chr15:54490863-54490864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116137434	chr15:54490878-54490879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139478028	chr15:54490885-54490886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574731920	chr15:54490891-54490892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115093057	chr15:54490907-54490908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557434099	chr15:54490924-54490925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577230765	chr15:54491032-54491033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565537267	chr15:54491033-54491034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113450363	chr15:54491051-54491052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12440360	chr15:54491059-54491060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559515116	chr15:54491115-54491116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114610684	chr15:54491119-54491120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554220876	chr15:54491159-54491160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542159266	chr15:54491173-54491174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569382870	chr15:54491251-54491252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144186491	chr15:54491258-54491259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147343696	chr15:54491285-54491286	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	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	chr15:54489400-54492400	Weak transcription	Fetal Lung	lung
2	chr15:54490000-54490200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:54490000-54490400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr15:54490000-54490800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr15:54490200-54490600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr15:54490200-54490600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:54490200-54490800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:54490200-54490800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:54490200-54490800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:54490400-54490800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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