Variant report

Variant	esv2207340
Chromosome Location	chr5:178296535-178296539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178285911..178288443-chr5:178294689..178296630,2	K562	blood:
2	chr5:178290096..178292803-chr5:178294356..178296794,2	K562	blood:
3	chr5:178286202..178288333-chr5:178295235..178296864,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178338	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77857491	chr5:178296535-178296536	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11949180	chr5:178296536-178296537	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs202231167	chr5:178296539-178296540	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178287600-178302400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:178288200-178317400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr5:178288400-178299200	Strong transcription	Fetal Muscle Trunk	muscle
4	chr5:178288600-178299400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:178288800-178297600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:178288800-178300000	Strong transcription	Fetal Lung	lung
7	chr5:178288800-178302200	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:178288800-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:178289000-178297000	Strong transcription	Fetal Stomach	stomach
10	chr5:178289000-178297400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:178289000-178297400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr5:178289000-178299600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:178289000-178301000	Strong transcription	Fetal Muscle Leg	muscle
14	chr5:178289000-178301600	Weak transcription	Stomach Mucosa	stomach
15	chr5:178289200-178299000	Strong transcription	Fetal Brain Female	brain
16	chr5:178289400-178302200	Strong transcription	Brain Anterior Caudate	brain
17	chr5:178289600-178317400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:178289800-178297200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:178289800-178297600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:178289800-178299000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:178289800-178300200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:178289800-178300200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr5:178290000-178299400	Weak transcription	Fetal Heart	heart
24	chr5:178290000-178302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:178290200-178297800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr5:178290600-178298600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:178290600-178298600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:178290600-178299000	Weak transcription	Fetal Brain Male	brain
29	chr5:178290600-178299600	Strong transcription	Brain Germinal Matrix	brain
30	chr5:178290600-178299800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:178290600-178301200	Strong transcription	Brain Cingulate Gyrus	brain
32	chr5:178290800-178298800	Strong transcription	Primary T cells from cord blood	blood
33	chr5:178290800-178300200	Strong transcription	Left Ventricle	heart
34	chr5:178291000-178298400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:178291000-178299200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:178291000-178299200	Strong transcription	Fetal Thymus	thymus
37	chr5:178291000-178300000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:178291200-178317400	ZNF genes & repeats	Liver	Liver
39	chr5:178291400-178298000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:178291400-178300200	Strong transcription	Dnd41	blood
41	chr5:178291600-178299000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr5:178291800-178299000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
43	chr5:178292000-178303000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:178292200-178299200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:178292200-178302200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:178292400-178297400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr5:178292600-178298600	Strong transcription	Brain Hippocampus Middle	brain
48	chr5:178292600-178299200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:178292600-178299400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr5:178292600-178299400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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