Variant report

Variant	esv1323881
Chromosome Location	chr5:60573640-60573643
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	chr5:60560892..60563443-chr5:60571695..60574490,2	MCF-7	breast:
2	chr5:60458169..60460018-chr5:60573555..60575664,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188725	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 90 )

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	rs34213421	chr5:60573641-60573642	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35771174	chr5:60573642-60573643	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78548362	chr5:60573643-60573644	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
2	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
3	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:60569000-60574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:60569200-60574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:60569400-60574000	Enhancers	Primary B cells from cord blood	blood
8	chr5:60570000-60573800	Enhancers	NHLF	lung
9	chr5:60570800-60573800	Enhancers	A549	lung
10	chr5:60570800-60574400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:60571000-60573800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:60571000-60574400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:60571000-60574400	Enhancers	NHEK	skin
14	chr5:60571200-60573800	Enhancers	HMEC	breast
15	chr5:60571200-60574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:60571200-60576600	Weak transcription	Pancreas	Pancrea
17	chr5:60571600-60574600	Weak transcription	Small Intestine	intestine
18	chr5:60571800-60574600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:60572000-60574000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:60572000-60577000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:60572000-60582400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:60572400-60573800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:60572600-60574000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr5:60572800-60573800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:60572800-60574000	Enhancers	Fetal Thymus	thymus
27	chr5:60572800-60574200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:60573000-60574000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr5:60573000-60574600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr5:60573200-60573800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:60573200-60573800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr5:60573200-60574000	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:60573200-60574000	Enhancers	Dnd41	blood
34	chr5:60573400-60573800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:60573400-60573800	Enhancers	Colonic Mucosa	Colon
36	chr5:60573400-60573800	Enhancers	Gastric	stomach
37	chr5:60573400-60573800	Weak transcription	Spleen	Spleen
38	chr5:60573400-60574400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr5:60573400-60574400	Weak transcription	Placenta	Placenta
40	chr5:60573400-60575600	Weak transcription	HSMM	muscle
41	chr5:60573400-60575800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:60573400-60575800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:60573400-60575800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:60573400-60586600	Weak transcription	Esophagus	oesophagus
45	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
46	chr5:60573600-60573800	Enhancers	HUVEC	blood vessel
47	chr5:60573600-60573800	Enhancers	NHDF-Ad	bronchial
48	chr5:60573600-60574000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:60573600-60574000	Enhancers	Brain Hippocampus Middle	brain
50	chr5:60573600-60574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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