Variant report

Variant	esv1817411
Chromosome Location	chr2:127674739-127688836
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: 43 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28405391	chr2:127674739-127674740	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188659599	chr2:127674746-127674747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531713393	chr2:127674748-127674749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375674457	chr2:127674758-127674759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556301012	chr2:127688015-127688016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60237710	chr2:127688041-127688042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542137465	chr2:127688049-127688050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562452342	chr2:127688057-127688058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527870197	chr2:127688058-127688059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541234020	chr2:127688067-127688068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368007370	chr2:127688076-127688077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144169490	chr2:127688162-127688163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115708698	chr2:127688164-127688165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146512290	chr2:127688196-127688197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386650172	chr2:127688197-127688198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73956174	chr2:127688199-127688200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375643291	chr2:127688251-127688252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72974907	chr2:127688333-127688334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534765548	chr2:127688347-127688348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558008446	chr2:127688348-127688349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140292960	chr2:127688378-127688379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545125557	chr2:127688396-127688397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1606011	chr2:127688434-127688435	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556647911	chr2:127688437-127688438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568133204	chr2:127688448-127688449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560008855	chr2:127688463-127688464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs72974909	chr2:127688502-127688503	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs555600626	chr2:127688505-127688506	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140827493	chr2:127688526-127688527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs567186110	chr2:127688563-127688564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs72974913	chr2:127688590-127688591	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564354526	chr2:127688618-127688619	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs148313634	chr2:127688632-127688633	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs72974914	chr2:127688656-127688657	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569201247	chr2:127688664-127688665	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543127593	chr2:127688676-127688677	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs538227034	chr2:127688689-127688690	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs55840536	chr2:127688735-127688736	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528870935	chr2:127688766-127688767	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs59431396	chr2:127688802-127688803	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559660675	chr2:127688805-127688806	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528413566	chr2:127688833-127688834	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13385899	chr2:127688836-127688837	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127674600-127674800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:127688000-127688400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:127688400-127688600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:127688400-127689200	ZNF genes & repeats	Spleen	Spleen
5	chr2:127688600-127688800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:127688600-127692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127688800-127689200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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