Variant report

Variant	esv3353291
Chromosome Location	chr5:177696372-177696724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:177694652..177698387-chr5:177701947..177705005,3	MCF-7	breast:
2	chr5:177674663..177677489-chr5:177694652..177697569,3	K562	blood:
3	chr5:177695402..177698313-chr5:177774135..177775779,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137927821	chr5:177696372-177696373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111619142	chr5:177696377-177696378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11745523	chr5:177696379-177696380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs70994993	chr5:177696394-177696395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141467932	chr5:177696395-177696396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150859177	chr5:177696403-177696404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181709772	chr5:177696419-177696420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186427074	chr5:177696422-177696423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371318534	chr5:177696452-177696453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13184804	chr5:177696469-177696470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13184810	chr5:177696475-177696476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531140701	chr5:177696479-177696480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551152096	chr5:177696480-177696481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11745558	chr5:177696483-177696484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200171407	chr5:177696484-177696485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201476135	chr5:177696492-177696493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201587719	chr5:177696513-177696514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57492329	chr5:177696515-177696516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59626500	chr5:177696519-177696520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375001070	chr5:177696521-177696522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369204769	chr5:177696522-177696523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532250102	chr5:177696525-177696526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58495808	chr5:177696527-177696528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550265765	chr5:177696529-177696530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60769699	chr5:177696531-177696532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199782832	chr5:177696537-177696538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200137434	chr5:177696544-177696545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200457009	chr5:177696549-177696550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57845966	chr5:177696551-177696552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58597060	chr5:177696562-177696563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58624090	chr5:177696574-177696575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146065740	chr5:177696579-177696580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59347954	chr5:177696583-177696584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535673246	chr5:177696592-177696593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60349458	chr5:177696602-177696603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73338894	chr5:177696653-177696654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113654882	chr5:177696698-177696699	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177669800-177699200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:177683000-177697400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:177689400-177698000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:177694000-177696800	Weak transcription	Fetal Stomach	stomach
5	chr5:177695200-177698600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177695400-177699200	Weak transcription	Right Ventricle	heart
7	chr5:177696600-177699400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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