Variant report

Variant	nsv598457
Chromosome Location	chr5:68861530-68879423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11491467	chr5:68861530-68861531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569632160	chr5:68861670-68861671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536675288	chr5:68861709-68861710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554940086	chr5:68861715-68861716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574034761	chr5:68861746-68861747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541333480	chr5:68861751-68861752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553344627	chr5:68861900-68861901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578141041	chr5:68861944-68861945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545237572	chr5:68862002-68862003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140270499	chr5:68862077-68862078	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531007626	chr5:68862098-68862099	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543092995	chr5:68862204-68862205	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561259023	chr5:68862232-68862233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528456573	chr5:68862287-68862288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547690207	chr5:68862330-68862331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199618050	chr5:68862352-68862353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371199291	chr5:68862362-68862363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200500586	chr5:68862363-68862364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59898528	chr5:68862365-68862366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201322877	chr5:68862426-68862427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569458926	chr5:68862430-68862431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199709030	chr5:68862442-68862443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62374263	chr5:68862573-68862574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536738237	chr5:68863250-68863251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548626523	chr5:68863301-68863302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566925254	chr5:68863387-68863388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534296832	chr5:68863391-68863392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553645590	chr5:68863403-68863404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578176000	chr5:68863431-68863432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539250346	chr5:68863489-68863490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368416459	chr5:68863509-68863510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557271985	chr5:68863519-68863520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77421214	chr5:68863550-68863551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200620823	chr5:68863596-68863597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374625359	chr5:68863609-68863610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575850520	chr5:68863671-68863672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543155472	chr5:68863672-68863673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561336566	chr5:68863705-68863706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376281599	chr5:68864057-68864058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367988135	chr5:68864152-68864153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72433892	chr5:68864231-68864232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561686765	chr5:68864258-68864259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540245652	chr5:68864259-68864260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71222109	chr5:68864281-68864282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62374264	chr5:68864632-68864633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559624629	chr5:68864696-68864697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80226356	chr5:68864840-68864841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533072744	chr5:68865488-68865489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551592479	chr5:68865505-68865506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563150250	chr5:68866996-68866997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	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
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
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68856200-68863800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:68857000-68861600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:68857000-68862000	Weak transcription	Fetal Intestine Large	intestine
4	chr5:68857000-68862800	Weak transcription	Fetal Stomach	stomach
5	chr5:68857000-68863200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:68857000-68863200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:68857000-68863600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:68857000-68863800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:68857000-68863800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:68857000-68863800	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:68857000-68863800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:68857000-68863800	Weak transcription	Ovary	ovary
13	chr5:68857000-68863800	Weak transcription	HSMM	muscle
14	chr5:68857000-68864000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:68857000-68864000	Weak transcription	Adipose Nuclei	Adipose
16	chr5:68857000-68864000	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:68857000-68864800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:68857000-68865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:68857000-68865600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:68857000-68865600	Weak transcription	NHEK	skin
21	chr5:68857000-68865600	Weak transcription	Osteobl	bone
22	chr5:68857000-68865800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:68857000-68865800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:68857000-68865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:68857000-68865800	Weak transcription	Liver	Liver
26	chr5:68857000-68866000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:68857000-68866200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:68857000-68866200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:68857000-68868000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:68857000-68869600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:68857000-68869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:68857000-68870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:68857000-68870200	Weak transcription	Fetal Intestine Small	intestine
34	chr5:68857000-68870600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr5:68857000-68870600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:68857000-68878200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:68857000-68883400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:68857200-68861600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:68857200-68862000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:68857200-68863800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:68857200-68864000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:68857800-68863800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:68857800-68863800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:68857800-68863800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:68860000-68861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:68861400-68861800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:68861400-68862400	Strong transcription	Dnd41	blood
48	chr5:68861600-68862400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:68861600-68862400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:68861800-68867800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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