Variant report

Variant	nsv600256
Chromosome Location	chr5:167622914-167643545
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	chr5:167638699..167640439-chr5:167642753..167644819,2	K562	blood:
2	chr5:167629202..167631723-chr5:167632406..167635349,3	K562	blood:
3	chr5:167530827..167533333-chr5:167637920..167639619,2	K562	blood:
4	chr5:167625904..167627787-chr5:167630198..167633051,2	K562	blood:
5	chr5:167638699..167640439-chr5:167642753..167644819,2	K562	blood:
6	chr5:167617381..167620061-chr5:167621010..167623836,2	K562	blood:
7	chr5:167625904..167627787-chr5:167630198..167633051,2	K562	blood:
8	chr5:167629202..167631723-chr5:167632406..167635349,3	K562	blood:

No data

Extended variants
information (count: 762 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:762 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13180204	chr5:167622914-167622915	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566991945	chr5:167622977-167622978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150719666	chr5:167622990-167622991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540579528	chr5:167622998-167622999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535656928	chr5:167623052-167623053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs17731087	chr5:167623089-167623090	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569226181	chr5:167623164-167623165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115333350	chr5:167623280-167623281	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17632217	chr5:167623283-167623284	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576760398	chr5:167623359-167623360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183308274	chr5:167623394-167623395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532012492	chr5:167623416-167623417	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113018205	chr5:167623439-167623440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572927315	chr5:167623486-167623487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542054207	chr5:167623489-167623490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139944473	chr5:167623524-167623525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575630951	chr5:167623553-167623554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544495609	chr5:167623562-167623563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144964995	chr5:167623638-167623639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548185356	chr5:167623655-167623656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566444733	chr5:167623696-167623697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147928491	chr5:167623747-167623748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187994941	chr5:167623756-167623757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192153247	chr5:167623757-167623758	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140112073	chr5:167623759-167623760	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184701308	chr5:167623763-167623764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188703382	chr5:167623803-167623804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145430417	chr5:167623818-167623819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34608084	chr5:167623831-167623832	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570401157	chr5:167623908-167623909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147686772	chr5:167623940-167623941	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36055422	chr5:167623941-167623942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552651617	chr5:167623965-167623966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149166129	chr5:167623967-167623968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113129210	chr5:167624023-167624024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111345607	chr5:167624077-167624078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77411734	chr5:167624083-167624084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140391470	chr5:167624084-167624085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558028696	chr5:167624102-167624103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552119356	chr5:167624107-167624108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17069979	chr5:167624108-167624109	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560260640	chr5:167624158-167624159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115026400	chr5:167624161-167624162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539220763	chr5:167624162-167624163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542699040	chr5:167624202-167624203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562786145	chr5:167624309-167624310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192544709	chr5:167624328-167624329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73385749	chr5:167624348-167624349	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2173018	chr5:167624416-167624417	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184975839	chr5:167624442-167624443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16865294	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167592400-167626000	Weak transcription	HSMM	muscle
2	chr5:167606600-167626800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:167608600-167631800	Weak transcription	NH-A	brain
4	chr5:167615800-167633800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:167615800-167646600	Weak transcription	Fetal Heart	heart
6	chr5:167617000-167628200	Strong transcription	NHEK	skin
7	chr5:167618800-167624000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:167618800-167625000	Weak transcription	Right Ventricle	heart
9	chr5:167619200-167646600	Weak transcription	NHDF-Ad	bronchial
10	chr5:167620600-167626800	Weak transcription	Brain Angular Gyrus	brain
11	chr5:167620800-167634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:167620800-167636400	Weak transcription	HSMMtube	muscle
13	chr5:167621200-167636600	Weak transcription	Brain Anterior Caudate	brain
14	chr5:167621400-167626800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:167621400-167636600	Weak transcription	Fetal Lung	lung
16	chr5:167621400-167657600	Weak transcription	Fetal Brain Female	brain
17	chr5:167621800-167629000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:167621800-167646400	Weak transcription	Brain Germinal Matrix	brain
19	chr5:167622000-167624200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:167622200-167623000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:167622200-167628000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:167622200-167636200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:167622200-167636400	Weak transcription	Fetal Brain Male	brain
24	chr5:167622400-167623000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:167622400-167625600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:167622600-167636600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:167622800-167625600	Weak transcription	Left Ventricle	heart
28	chr5:167622800-167629800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:167622800-167634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:167623000-167634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:167624000-167631400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:167624000-167636600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:167624200-167625600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:167624600-167634400	Weak transcription	HMEC	breast
35	chr5:167624600-167646600	Weak transcription	Liver	Liver
36	chr5:167624800-167636800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:167625000-167628200	Strong transcription	Right Ventricle	heart
38	chr5:167625600-167627200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:167625600-167633200	Strong transcription	Left Ventricle	heart
40	chr5:167625600-167633400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:167626000-167628800	Strong transcription	HSMM	muscle
42	chr5:167626400-167636600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:167626800-167627200	Strong transcription	Brain Angular Gyrus	brain
44	chr5:167626800-167627400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:167626800-167629200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:167627200-167631200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:167627200-167636400	Weak transcription	Brain Angular Gyrus	brain
48	chr5:167627400-167630000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:167628000-167630000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:167628200-167630000	Weak transcription	NHEK	skin

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