Variant report

Variant	nsv881397
Chromosome Location	chr5:28056225-28207188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:28173448..28176167-chr5:28180789..28182716,2	K562	blood:
2	chr5:28059133..28061539-chr5:28063046..28065805,2	K562	blood:
3	chr5:28173448..28176167-chr5:28180789..28182716,2	K562	blood:
4	chr5:28078809..28081499-chr5:28083872..28086388,2	K562	blood:
5	chr5:28078809..28081499-chr5:28083872..28086388,2	K562	blood:
6	chr5:28059133..28061539-chr5:28063046..28065805,2	K562	blood:

Extended variants
information (count: 1500 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1500 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35910787	chr5:28060810-28060811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563508627	chr5:28060815-28060816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555733215	chr5:28060998-28060999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55836076	chr5:28061017-28061018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397974479	chr5:28061018-28061019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575470296	chr5:28061043-28061044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545472906	chr5:28061044-28061045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564255084	chr5:28061105-28061106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190107586	chr5:28061142-28061143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546526835	chr5:28061184-28061185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561549410	chr5:28061185-28061186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182184770	chr5:28061186-28061187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11958662	chr5:28061200-28061201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569051135	chr5:28061252-28061253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375442991	chr5:28061266-28061267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200330427	chr5:28061273-28061274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201633082	chr5:28061274-28061275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150415685	chr5:28061282-28061283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9292241	chr5:28061328-28061329	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185222956	chr5:28061464-28061465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371056759	chr5:28061502-28061503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553304485	chr5:28061503-28061504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559255842	chr5:28061621-28061622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568378750	chr5:28061662-28061663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191906374	chr5:28061715-28061716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184159693	chr5:28061776-28061777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370356791	chr5:28061781-28061782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575432739	chr5:28061796-28061797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543004841	chr5:28066011-28066012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs146906275	chr5:28066020-28066021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs191047085	chr5:28066063-28066064	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566963485	chr5:28066067-28066068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs4519933	chr5:28066111-28066112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs183006687	chr5:28066133-28066134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs4394133	chr5:28066142-28066143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4526114	chr5:28066166-28066167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569298952	chr5:28066170-28066171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs77944460	chr5:28066181-28066182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141573498	chr5:28066214-28066215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150463271	chr5:28066223-28066224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375206079	chr5:28066238-28066239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs559357532	chr5:28066247-28066248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187630499	chr5:28066347-28066348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs138262581	chr5:28066430-28066431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs191707948	chr5:28066489-28066490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547754722	chr5:28066490-28066491	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78084950	chr5:28066551-28066552	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536932617	chr5:28066555-28066556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552473301	chr5:28066575-28066576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182577309	chr5:28066582-28066583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28060800-28061200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:28060800-28061800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:28066000-28067200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:28077800-28078000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:28083000-28084000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:28083200-28083400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:28083400-28084200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:28083600-28086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:28084200-28084400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:28084200-28084600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:28084400-28085800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:28086200-28087200	Active TSS	A549	lung
13	chr5:28086600-28086800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:28110800-28111200	Active TSS	A549	lung
15	chr5:28110800-28111400	Enhancers	Fetal Stomach	stomach
16	chr5:28110800-28111600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:28111600-28117200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:28117200-28118400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:28124400-28124800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:28138000-28143800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:28143600-28144000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:28143600-28144200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:28143800-28144000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:28143800-28144000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:28143800-28144200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:28143800-28144400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:28143800-28144400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:28153000-28153600	Enhancers	HUVEC	blood vessel
29	chr5:28153600-28154400	Active TSS	HUVEC	blood vessel
30	chr5:28153600-28154800	Active TSS	A549	lung
31	chr5:28154400-28154800	Flanking Active TSS	HUVEC	blood vessel
32	chr5:28154800-28157600	Active TSS	HUVEC	blood vessel
33	chr5:28157600-28158600	Enhancers	HUVEC	blood vessel
34	chr5:28158200-28158800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:28158200-28160000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:28160000-28164800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:28164400-28166200	Enhancers	HUVEC	blood vessel
38	chr5:28164600-28165400	Enhancers	Brain Hippocampus Middle	brain
39	chr5:28164800-28165200	Enhancers	Adipose Nuclei	Adipose
40	chr5:28164800-28165200	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:28164800-28165200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:28164800-28166000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:28164800-28166000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr5:28164800-28166000	Enhancers	Brain Substantia Nigra	brain
45	chr5:28164800-28166200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:28165200-28165600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr5:28165200-28165600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr5:28165200-28166000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr5:28165400-28165800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:28165400-28165800	Active TSS	Brain Cingulate Gyrus	brain

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