Variant report

Variant	nsv328252
Chromosome Location	chr5:60233868-60233889
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	chr5:60231929..60237280-chr5:60239098..60242865,6	MCF-7	breast:
2	chr5:60232184..60235811-chr5:60236501..60239833,3	K562	blood:

Variant related genes	Relation type
ENSG00000164182	chromatin interactions
ENSG00000049167	chromatin interactions

Extended variants
information (count: 5 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374898762	chr5:60233868-60233869	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs373214701	chr5:60233870-60233871	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2694520	chr5:60233871-60233872	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2694519	chr5:60233875-60233876	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
5	rs7712816	chr5:60233879-60233880	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Autism	22495311	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
Contiguous gene syndrome	19525295	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60175800-60239400	Weak transcription	NHEK	skin
2	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
3	chr5:60187600-60239600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:60187800-60239600	Weak transcription	Brain Angular Gyrus	brain
5	chr5:60189400-60240000	Weak transcription	Spleen	Spleen
6	chr5:60189600-60239600	Weak transcription	Right Ventricle	heart
7	chr5:60189600-60240000	Weak transcription	Pancreas	Pancrea
8	chr5:60193200-60239800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:60213000-60239800	Weak transcription	Colonic Mucosa	Colon
10	chr5:60213400-60239800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:60213800-60239600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:60214400-60240000	Weak transcription	Brain Substantia Nigra	brain
13	chr5:60214800-60240000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:60214800-60240200	Weak transcription	Aorta	Aorta
15	chr5:60218800-60238800	Weak transcription	Liver	Liver
16	chr5:60221600-60239800	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:60222000-60239600	Weak transcription	NHLF	lung
18	chr5:60223400-60239400	Weak transcription	NH-A	brain
19	chr5:60223600-60239400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr5:60223600-60239800	Weak transcription	Brain Anterior Caudate	brain
21	chr5:60223600-60240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:60224000-60239400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:60224000-60239400	Weak transcription	K562	blood
24	chr5:60224200-60235800	Weak transcription	HSMM	muscle
25	chr5:60224200-60239200	Weak transcription	HUVEC	blood vessel
26	chr5:60224200-60239400	Weak transcription	HMEC	breast
27	chr5:60224200-60240000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:60224200-60240000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:60224400-60236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:60224400-60239400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:60224400-60239600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:60224400-60239800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:60224400-60239800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:60224400-60240000	Weak transcription	Fetal Thymus	thymus
35	chr5:60224600-60239800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:60225000-60239400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:60225200-60239400	Weak transcription	Osteobl	bone
38	chr5:60225200-60239800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:60225200-60240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:60225400-60239400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:60225800-60239400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:60228600-60239800	Weak transcription	Psoas Muscle	Psoas
43	chr5:60232000-60234200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr5:60232000-60239800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:60232600-60239400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:60232800-60235000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:60233000-60234200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:60233000-60235200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:60233200-60234800	ZNF genes & repeats	GM12878-XiMat	blood
50	chr5:60233400-60236200	Strong transcription	HepG2	liver

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