Variant report

Variant	esv2321766
Chromosome Location	chr5:177728811-177729303
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	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11742718	chr5:177728872-177728873	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553045632	chr5:177728888-177728889	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs577756052	chr5:177728891-177728892	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs189756604	chr5:177728894-177728895	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs184020087	chr5:177728901-177728902	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs112720158	chr5:177728921-177728922	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs112388290	chr5:177728939-177728940	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs67051963	chr5:177728945-177728946	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs70994995	chr5:177728970-177728971	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs112778041	chr5:177728975-177728976	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs112971919	chr5:177728981-177728982	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs111271218	chr5:177728984-177728985	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs546926810	chr5:177729003-177729004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370000020	chr5:177729014-177729015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571358814	chr5:177729017-177729018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532281808	chr5:177729023-177729024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113952864	chr5:177729029-177729030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111692005	chr5:177729036-177729037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146606991	chr5:177729039-177729040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149179346	chr5:177729041-177729042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112375259	chr5:177729045-177729046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533978759	chr5:177729047-177729048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558364901	chr5:177729048-177729049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577694464	chr5:177729065-177729066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545071082	chr5:177729079-177729080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111462671	chr5:177729086-177729087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62390195	chr5:177729097-177729098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141429985	chr5:177729122-177729123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561625219	chr5:177729125-177729126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528825297	chr5:177729126-177729127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188965327	chr5:177729133-177729134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372979631	chr5:177729136-177729137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201357275	chr5:177729145-177729146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62390196	chr5:177729148-177729149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193067035	chr5:177729156-177729157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568975299	chr5:177729160-177729161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370607195	chr5:177729161-177729162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374352549	chr5:177729166-177729167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529688014	chr5:177729184-177729185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185305652	chr5:177729191-177729192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149501030	chr5:177729194-177729195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533871136	chr5:177729195-177729196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187590913	chr5:177729202-177729203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191622575	chr5:177729205-177729206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374250250	chr5:177729215-177729216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71594787	chr5:177729224-177729225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71594788	chr5:177729227-177729228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537660399	chr5:177729228-177729229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71594789	chr5:177729235-177729236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112257005	chr5:177729238-177729239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177720600-177734600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:177725400-177731600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:177725400-177732800	Weak transcription	Spleen	Spleen
4	chr5:177725600-177732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:177728400-177733800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:177728600-177729000	ZNF genes & repeats	Fetal Stomach	stomach
7	chr5:177728600-177729000	Enhancers	Gastric	stomach
8	chr5:177728600-177729000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
9	chr5:177728800-177729000	ZNF genes & repeats	Right Atrium	heart
10	chr5:177729000-177730800	Weak transcription	Fetal Stomach	stomach
11	chr5:177729000-177739000	Weak transcription	Gastric	stomach

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