Variant report

Variant	nsv321518
Chromosome Location	chr5:60630721-60630721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:
2	chr5:60628107..60631036-chr5:60638453..60640753,2	K562	blood:
3	chr5:60318175..60320382-chr5:60629060..60630909,2	K562	blood:
4	chr5:60473013..60474632-chr5:60628436..60631352,3	MCF-7	breast:
5	chr5:60616605..60619151-chr5:60628715..60631472,3	K562	blood:
6	chr5:60628335..60630903-chr5:60650780..60653368,3	K562	blood:
7	chr5:60457454..60460257-chr5:60630674..60632720,2	K562	blood:
8	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000188725	chromatin interactions
ENSG00000251279	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 90 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374407531	chr5:60630721-60630722	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60625200-60630800	Active TSS	Colonic Mucosa	Colon
2	chr5:60625400-60631000	Active TSS	Brain Hippocampus Middle	brain
3	chr5:60625600-60630800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:60625600-60630800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:60625600-60631000	Active TSS	Brain Anterior Caudate	brain
6	chr5:60625800-60630800	Active TSS	NHDF-Ad	bronchial
7	chr5:60625800-60631000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:60625800-60631000	Active TSS	HSMM	muscle
9	chr5:60626000-60630800	Active TSS	Aorta	Aorta
10	chr5:60626000-60630800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr5:60626000-60630800	Active TSS	Ovary	ovary
12	chr5:60626000-60630800	Active TSS	Right Atrium	heart
13	chr5:60626000-60631000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:60626000-60631000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:60626000-60631200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:60626000-60631200	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:60626000-60631200	Active TSS	Right Ventricle	heart
18	chr5:60626000-60631400	Active TSS	Fetal Kidney	kidney
19	chr5:60626000-60631600	Active TSS	NHLF	lung
20	chr5:60626200-60630800	Active TSS	Osteobl	bone
21	chr5:60626200-60631000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:60626200-60631000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:60626200-60631200	Active TSS	Brain Angular Gyrus	brain
24	chr5:60626200-60631200	Active TSS	Left Ventricle	heart
25	chr5:60626400-60631000	Active TSS	Esophagus	oesophagus
26	chr5:60626400-60631000	Active TSS	Fetal Muscle Trunk	muscle
27	chr5:60626400-60631200	Active TSS	Lung	lung
28	chr5:60626400-60631400	Active TSS	HSMMtube	muscle
29	chr5:60627000-60630800	Active TSS	Stomach Smooth Muscle	stomach
30	chr5:60628800-60630800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:60628800-60630800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr5:60629200-60631400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:60629400-60630800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:60629400-60631400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr5:60629600-60631000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr5:60629600-60631000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:60629600-60631200	Active TSS	Fetal Brain Male	brain
38	chr5:60629600-60632200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:60629800-60630800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr5:60629800-60630800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:60629800-60631200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:60629800-60631400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:60629800-60631400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr5:60630000-60630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:60630000-60630800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:60630000-60630800	Flanking Active TSS	Fetal Heart	heart
47	chr5:60630000-60631000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
48	chr5:60630000-60631000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr5:60630000-60631000	Flanking Active TSS	Liver	Liver
50	chr5:60630000-60631000	Flanking Active TSS	Fetal Muscle Leg	muscle

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