Variant report

Variant	nsv1022734
Chromosome Location	chr5:111429579-111458935
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	chr5:111427178..111429315-chr5:111442008..111443800,2	K562	blood:

Extended variants
information (count: 1125 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1125 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35470988	chr5:111429579-111429580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1579306	chr5:111429601-111429602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142301779	chr5:111429641-111429642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs30391	chr5:111429647-111429648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559817603	chr5:111429653-111429654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530180662	chr5:111429677-111429678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541704474	chr5:111429683-111429684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562542663	chr5:111429718-111429719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114286238	chr5:111429719-111429720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369358177	chr5:111429721-111429722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13357604	chr5:111429725-111429726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs173583	chr5:111429737-111429738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550060278	chr5:111429745-111429746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75218118	chr5:111429751-111429752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114415726	chr5:111429773-111429774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538851508	chr5:111429854-111429855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553652494	chr5:111429884-111429885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571844497	chr5:111429911-111429912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78390052	chr5:111429920-111429921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529623211	chr5:111429928-111429929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs30390	chr5:111429959-111429960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377347429	chr5:111429978-111429979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142675555	chr5:111429994-111429995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531557422	chr5:111430007-111430008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543008673	chr5:111430030-111430031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565575746	chr5:111430031-111430032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577437798	chr5:111430072-111430073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145938873	chr5:111430100-111430101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139886745	chr5:111430105-111430106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs248747	chr5:111430170-111430171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183090679	chr5:111430203-111430204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187425733	chr5:111430225-111430226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192063463	chr5:111430272-111430273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114050270	chr5:111430321-111430322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117473480	chr5:111430322-111430323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370732719	chr5:111430332-111430333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149598831	chr5:111430407-111430408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184911499	chr5:111430412-111430413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374560625	chr5:111430415-111430416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552030293	chr5:111430470-111430471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570616160	chr5:111430478-111430479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547598794	chr5:111430492-111430493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565535634	chr5:111430543-111430544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188225129	chr5:111430571-111430572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386691148	chr5:111430594-111430595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76859216	chr5:111430595-111430596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs152553	chr5:111430601-111430602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558230632	chr5:111430642-111430643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577497097	chr5:111430743-111430744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192500990	chr5:111430782-111430783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111429200-111443400	Weak transcription	Aorta	Aorta
2	chr5:111429200-111456200	Weak transcription	Pancreas	Pancrea
3	chr5:111433200-111433400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:111433400-111433600	Enhancers	Osteobl	bone
5	chr5:111433400-111433800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:111433400-111434000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:111433400-111434000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:111433600-111434000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:111433600-111434000	Flanking Active TSS	Osteobl	bone
10	chr5:111433800-111434000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:111434000-111434200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:111434000-111434400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:111439000-111439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:111441000-111441200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:111442400-111443000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:111442800-111443000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr5:111443000-111444800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr5:111443200-111445800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:111443400-111444000	Enhancers	Aorta	Aorta
20	chr5:111444800-111445200	Enhancers	Gastric	stomach
21	chr5:111444800-111446400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:111445000-111445200	Enhancers	Fetal Heart	heart
23	chr5:111445000-111445400	Enhancers	Left Ventricle	heart
24	chr5:111445000-111445600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:111445000-111445600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:111445000-111445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:111445000-111445600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:111445000-111445600	Enhancers	Adipose Nuclei	Adipose
29	chr5:111445000-111445600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:111445000-111445600	Enhancers	HMEC	breast
31	chr5:111445000-111445800	Enhancers	NHLF	lung
32	chr5:111445000-111446200	Enhancers	Fetal Lung	lung
33	chr5:111445000-111447000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr5:111445200-111445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:111445200-111445600	Enhancers	NHEK	skin
36	chr5:111445200-111446800	Weak transcription	Fetal Heart	heart
37	chr5:111445400-111445800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:111445400-111445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:111445400-111445800	Enhancers	Liver	Liver
40	chr5:111445400-111445800	Enhancers	NHDF-Ad	bronchial
41	chr5:111445600-111446600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:111445600-111448000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:111445600-111448200	Weak transcription	Adipose Nuclei	Adipose
44	chr5:111445800-111447000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:111445800-111450000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:111445800-111452000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:111446200-111447400	Enhancers	GM12878-XiMat	blood
48	chr5:111446600-111446800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:111446800-111447000	Enhancers	Fetal Heart	heart
50	chr5:111447000-111447400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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