Variant report

Variant	esv3470822
Chromosome Location	chr5:177724618-177725067
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	chr5:177723976..177725542-chr5:178052631..178055035,2	K562	blood:
2	chr5:177722976..177725589-chr5:177728477..177731343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113240	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558712927	chr5:177724712-177724713	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577591242	chr5:177724720-177724721	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544892418	chr5:177724753-177724754	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2913755	chr5:177724766-177724767	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75144237	chr5:177724781-177724782	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs398093913	chr5:177724782-177724783	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575044587	chr5:177724788-177724789	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542062893	chr5:177724816-177724817	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2973782	chr5:177724826-177724827	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527436569	chr5:177724836-177724837	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2973783	chr5:177724837-177724838	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563770740	chr5:177724847-177724848	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531231256	chr5:177724864-177724865	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73804779	chr5:177724897-177724898	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182302319	chr5:177724924-177724925	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568025549	chr5:177724948-177724949	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2973784	chr5:177724977-177724978	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12659988	chr5:177725048-177725049	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566938575	chr5:177725049-177725050	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs372387673	chr5:177725059-177725060	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144353599	chr5:177725066-177725067	Weak transcription Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177703600-177728800	Weak transcription	Right Atrium	heart
2	chr5:177720600-177734600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:177723000-177725400	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:177723200-177728000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:177723400-177725000	Strong transcription	Fetal Stomach	stomach
6	chr5:177723800-177725600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:177724600-177725400	Active TSS	Spleen	Spleen
8	chr5:177724600-177725600	ZNF genes & repeats	Esophagus	oesophagus
9	chr5:177724800-177725000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr5:177725000-177728600	Weak transcription	Fetal Stomach	stomach

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