Variant report

Variant	esv3325232
Chromosome Location	chr5:177913993-177914267
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	chr5:177912045..177914389-chr5:177919098..177921696,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372809904	chr5:177913994-177913995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2173435	chr5:177914065-177914066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558295398	chr5:177914079-177914080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2647705	chr5:177914148-177914149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62389451	chr5:177914162-177914163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142287340	chr5:177914206-177914207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544064338	chr5:177914267-177914268	Weak transcription Enhancers	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177911200-177914200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr5:177912600-177916400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:177912600-177917000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:177912800-177914000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:177912800-177914200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:177912800-177915600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:177912800-177916400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:177913000-177914000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:177913000-177914000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:177913000-177914000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr5:177913000-177916000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr5:177913000-177916400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:177913200-177914000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:177913200-177914000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:177913200-177914000	Enhancers	Fetal Stomach	stomach
16	chr5:177913200-177914200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:177913400-177914600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:177913400-177915200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:177913600-177914600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:177913600-177914600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:177913600-177914600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:177913600-177914600	Weak transcription	Right Atrium	heart
23	chr5:177913600-177914800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:177913800-177914000	Enhancers	Right Ventricle	heart
25	chr5:177913800-177914000	Enhancers	Spleen	Spleen
26	chr5:177913800-177915000	Enhancers	Left Ventricle	heart
27	chr5:177913800-177918600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr5:177914000-177914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:177914000-177914400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:177914000-177914400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:177914000-177914400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:177914000-177915800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:177914000-177916000	Weak transcription	Spleen	Spleen
34	chr5:177914200-177914600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:177914200-177914600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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