Variant report

Variant	esv3351955
Chromosome Location	chr5:178650408-178650578
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	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
2	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 103 )

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	rs373521621	chr5:178650410-178650411	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573330226	chr5:178650417-178650418	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572412312	chr5:178650418-178650419	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181196433	chr5:178650420-178650421	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58581656	chr5:178650422-178650423	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571603050	chr5:178650425-178650426	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538847502	chr5:178650439-178650440	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541289768	chr5:178650450-178650451	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186127171	chr5:178650451-178650452	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370628279	chr5:178650455-178650456	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536575528	chr5:178650456-178650457	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554898179	chr5:178650478-178650479	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572808508	chr5:178650481-178650482	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539800403	chr5:178650500-178650501	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190976940	chr5:178650501-178650502	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576831568	chr5:178650502-178650503	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544281691	chr5:178650519-178650520	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563568694	chr5:178650520-178650521	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201479537	chr5:178650527-178650528	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140403370	chr5:178650528-178650529	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs67228267	chr5:178650529-178650530	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201778803	chr5:178650537-178650538	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72136295	chr5:178650538-178650539	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368810120	chr5:178650540-178650541	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200255303	chr5:178650541-178650542	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201047057	chr5:178650555-178650556	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577389812	chr5:178650556-178650557	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201193209	chr5:178650557-178650558	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543329811	chr5:178650558-178650559	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs378734	chr5:178650559-178650560	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs365584	chr5:178650561-178650562	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs440339	chr5:178650565-178650566	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561204910	chr5:178650566-178650567	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6865313	chr5:178650567-178650568	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546648769	chr5:178650574-178650575	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571727752	chr5:178650576-178650577	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11749097	chr5:178650577-178650578	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178638200-178656600	Weak transcription	HSMMtube	muscle
2	chr5:178644200-178654200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:178644600-178653800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:178644800-178650600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:178645000-178651800	Weak transcription	HSMM	muscle
6	chr5:178645000-178667800	Weak transcription	Right Atrium	heart
7	chr5:178646200-178650600	Weak transcription	Adipose Nuclei	Adipose
8	chr5:178646200-178650800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:178648400-178650600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:178648600-178654200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:178649600-178650800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:178649600-178652800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:178649800-178651000	ZNF genes & repeats	Gastric	stomach
14	chr5:178649800-178652600	ZNF genes & repeats	Fetal Stomach	stomach
15	chr5:178650000-178652800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:178650200-178650600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:178650200-178651000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:178650200-178651000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr5:178650200-178651000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:178650200-178651000	ZNF genes & repeats	Fetal Brain Male	brain
21	chr5:178650200-178651000	ZNF genes & repeats	Fetal Kidney	kidney
22	chr5:178650200-178651200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr5:178650200-178651200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:178650200-178651200	ZNF genes & repeats	Fetal Lung	lung
25	chr5:178650200-178651200	ZNF genes & repeats	Pancreas	Pancrea
26	chr5:178650200-178652200	Strong transcription	Osteobl	bone
27	chr5:178650200-178652400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:178650200-178652400	ZNF genes & repeats	Spleen	Spleen
29	chr5:178650200-178652800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:178650400-178651000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:178650400-178651200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr5:178650400-178651200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:178650400-178651600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:178650400-178652000	ZNF genes & repeats	NHLF	lung

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