Variant report

Variant	esv3457094
Chromosome Location	chr2:127672782-127679180
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	chr2:127663020..127665879-chr2:127676391..127678881,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190665071	chr2:127672788-127672789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570627482	chr2:127672828-127672829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545381608	chr2:127672886-127672887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559067831	chr2:127672894-127672895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539579178	chr2:127672955-127672956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556597162	chr2:127672968-127672969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575739723	chr2:127672969-127672970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534115425	chr2:127674400-127674401	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs148063502	chr2:127674435-127674436	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551033941	chr2:127674439-127674440	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs367924342	chr2:127674442-127674443	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368809462	chr2:127674446-127674447	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192163341	chr2:127674473-127674474	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs199813052	chr2:127674480-127674481	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569286299	chr2:127674511-127674512	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113646789	chr2:127674538-127674539	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113320779	chr2:127674557-127674558	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79651427	chr2:127674560-127674561	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs555220906	chr2:127674572-127674573	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150588596	chr2:127674587-127674588	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs184484508	chr2:127674603-127674604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564330233	chr2:127674609-127674610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs78476253	chr2:127674632-127674633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532458732	chr2:127674712-127674713	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs28405391	chr2:127674739-127674740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs188659599	chr2:127674746-127674747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531713393	chr2:127674748-127674749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375674457	chr2:127674758-127674759	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127671600-127673000	Enhancers	Fetal Brain Male	brain
2	chr2:127672800-127673000	Enhancers	Fetal Brain Female	brain
3	chr2:127674400-127674600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:127674600-127674800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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