Variant report

Variant	esv1976733
Chromosome Location	chr15:75283168-75283654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:75283107-75283195	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SCAMP5	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187904502	chr15:75283177-75283178	Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs556823450	chr15:75283186-75283187	Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs145979180	chr15:75283193-75283194	Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142913404	chr15:75283285-75283286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202246428	chr15:75283305-75283306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368084873	chr15:75283306-75283307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56347637	chr15:75283309-75283310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs57565676	chr15:75283311-75283312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549076381	chr15:75283315-75283316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55860405	chr15:75283319-75283320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55994713	chr15:75283321-75283322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200660396	chr15:75283325-75283326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545568131	chr15:75283326-75283327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200560026	chr15:75283329-75283330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373158019	chr15:75283330-75283331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201852629	chr15:75283331-75283332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7180836	chr15:75283333-75283334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56201656	chr15:75283335-75283336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200326963	chr15:75283336-75283337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572810961	chr15:75283338-75283339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201157241	chr15:75283339-75283340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141261665	chr15:75283343-75283344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150787683	chr15:75283347-75283348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544953970	chr15:75283348-75283349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7182152	chr15:75283351-75283352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144592110	chr15:75283359-75283360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551970368	chr15:75283368-75283369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560641296	chr15:75283372-75283373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61229768	chr15:75283426-75283427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60315920	chr15:75283438-75283439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58738866	chr15:75283453-75283454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58340522	chr15:75283459-75283460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541422441	chr15:75283463-75283464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57118180	chr15:75283467-75283468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527736023	chr15:75283468-75283469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185136617	chr15:75283471-75283472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190423252	chr15:75283475-75283476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549452071	chr15:75283476-75283477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181202418	chr15:75283479-75283480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59605888	chr15:75283483-75283484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188027262	chr15:75283484-75283485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551979976	chr15:75283491-75283492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565621211	chr15:75283495-75283496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538218649	chr15:75283498-75283499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180931376	chr15:75283503-75283504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186083272	chr15:75283516-75283517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548206107	chr15:75283517-75283518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191928682	chr15:75283521-75283522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536651196	chr15:75283536-75283537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369758256	chr15:75283544-75283545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75282600-75283200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:75282600-75283400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:75282800-75283400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:75282800-75283400	Enhancers	HMEC	breast
5	chr15:75282800-75283400	Enhancers	NHEK	skin
6	chr15:75283000-75283200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:75283000-75283200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:75283200-75283800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:75283200-75287400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:75283400-75287400	Weak transcription	HMEC	breast
11	chr15:75283400-75287400	Weak transcription	NHEK	skin
12	chr15:75283400-75287600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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