Variant report

Variant	esv3397177
Chromosome Location	chr5:178614193-178614392
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	chr5:178613030..178614553-chr5:178617663..178620440,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530860446	chr5:178614206-178614207	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548982644	chr5:178614207-178614208	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542483727	chr5:178614210-178614211	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs252068	chr5:178614232-178614233	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112559417	chr5:178614237-178614238	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534607523	chr5:178614274-178614275	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546292131	chr5:178614303-178614304	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571368231	chr5:178614320-178614321	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs78623000	chr5:178614327-178614328	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186583111	chr5:178614330-178614331	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570129364	chr5:178614332-178614333	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557983215	chr5:178614355-178614356	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs146989960	chr5:178614360-178614361	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178594800-178627600	Weak transcription	Right Atrium	heart
2	chr5:178603400-178614200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:178607000-178615200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:178607400-178614400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:178607400-178622200	Weak transcription	NHDF-Ad	bronchial
6	chr5:178607400-178636200	Weak transcription	HSMM	muscle
7	chr5:178607600-178626000	Weak transcription	HSMMtube	muscle
8	chr5:178607800-178629000	Weak transcription	NHLF	lung
9	chr5:178608000-178614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:178608000-178620800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:178608200-178614200	Weak transcription	Ovary	ovary
12	chr5:178608200-178614800	Weak transcription	Adipose Nuclei	Adipose
13	chr5:178608200-178617800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:178608400-178619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:178608600-178616800	Weak transcription	Aorta	Aorta
16	chr5:178609000-178619400	Weak transcription	Osteobl	bone
17	chr5:178609800-178619600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:178610400-178619000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:178611800-178616000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:178611800-178616000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:178612000-178616000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:178612600-178615000	Flanking Active TSS	HepG2	liver
23	chr5:178612600-178615600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:178612600-178616000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:178612600-178616000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:178612600-178616000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:178612600-178616000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:178612800-178614200	Enhancers	Thymus	Thymus
29	chr5:178612800-178614400	Enhancers	Fetal Thymus	thymus
30	chr5:178612800-178615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:178612800-178616000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:178613000-178614200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:178613000-178614400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:178613200-178614400	Weak transcription	Fetal Lung	lung
35	chr5:178613200-178614400	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:178613200-178617600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:178613200-178617800	Weak transcription	Spleen	Spleen
38	chr5:178613400-178614600	Weak transcription	Placenta	Placenta
39	chr5:178613400-178616000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:178613600-178614400	Enhancers	Fetal Stomach	stomach
41	chr5:178613600-178614600	Weak transcription	Fetal Brain Female	brain
42	chr5:178613600-178615000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:178613600-178615400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr5:178613600-178615400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:178613600-178623200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr5:178613800-178616000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:178613800-178616000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:178614000-178614400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:178614000-178615400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr5:178614000-178615600	Enhancers	Fetal Brain Male	brain

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