Variant report

Variant	nsv599369
Chromosome Location	chr5:111419303-111446465
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:
2	chr5:111427178..111429315-chr5:111442008..111443800,2	K562	blood:

Extended variants
information (count: 996 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs30349	chr5:111419303-111419304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539377397	chr5:111419304-111419305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111365608	chr5:111419312-111419313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540649926	chr5:111419315-111419316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527551548	chr5:111419357-111419358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549262138	chr5:111419358-111419359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568967535	chr5:111419366-111419367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542502825	chr5:111419368-111419369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116232533	chr5:111419373-111419374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552797058	chr5:111419449-111419450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531115624	chr5:111419487-111419488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181168880	chr5:111419494-111419495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570977766	chr5:111419519-111419520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568358774	chr5:111419524-111419525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528547839	chr5:111419540-111419541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547026309	chr5:111419570-111419571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372302752	chr5:111419623-111419624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185630053	chr5:111419636-111419637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550646760	chr5:111419657-111419658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188427507	chr5:111419677-111419678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180847131	chr5:111419746-111419747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536866073	chr5:111419753-111419754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558305639	chr5:111419776-111419777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576536583	chr5:111419779-111419780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569039161	chr5:111419785-111419786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539567420	chr5:111419809-111419810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552737544	chr5:111419818-111419819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186589265	chr5:111419836-111419837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542192175	chr5:111419864-111419865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143086125	chr5:111419897-111419898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191804919	chr5:111419943-111419944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151158095	chr5:111419966-111419967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564630275	chr5:111420022-111420023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140297269	chr5:111420061-111420062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71579175	chr5:111420138-111420139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534181689	chr5:111420139-111420140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150361855	chr5:111420156-111420157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556073345	chr5:111420176-111420177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577529164	chr5:111420201-111420202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569397737	chr5:111420234-111420235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529274129	chr5:111420242-111420243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573662310	chr5:111420245-111420246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201500790	chr5:111420246-111420247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138013927	chr5:111420257-111420258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374002599	chr5:111420276-111420277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551965770	chr5:111420326-111420327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556214704	chr5:111420349-111420350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570307526	chr5:111420373-111420374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577775786	chr5:111420374-111420375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180895032	chr5:111423022-111423023	Enhancers	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111419200-111420000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:111419400-111420000	Enhancers	Fetal Lung	lung
3	chr5:111419800-111420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:111423000-111423400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:111423600-111429000	Weak transcription	Pancreas	Pancrea
6	chr5:111429000-111429200	ZNF genes & repeats	Aorta	Aorta
7	chr5:111429000-111429200	ZNF genes & repeats	Pancreas	Pancrea
8	chr5:111429200-111443400	Weak transcription	Aorta	Aorta
9	chr5:111429200-111456200	Weak transcription	Pancreas	Pancrea
10	chr5:111433200-111433400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:111433400-111433600	Enhancers	Osteobl	bone
12	chr5:111433400-111433800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:111433400-111434000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:111433400-111434000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:111433600-111434000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:111433600-111434000	Flanking Active TSS	Osteobl	bone
17	chr5:111433800-111434000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:111434000-111434200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:111434000-111434400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:111439000-111439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:111441000-111441200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:111442400-111443000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:111442800-111443000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:111443000-111444800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:111443200-111445800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:111443400-111444000	Enhancers	Aorta	Aorta
27	chr5:111444800-111445200	Enhancers	Gastric	stomach
28	chr5:111444800-111446400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:111445000-111445200	Enhancers	Fetal Heart	heart
30	chr5:111445000-111445400	Enhancers	Left Ventricle	heart
31	chr5:111445000-111445600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:111445000-111445600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:111445000-111445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:111445000-111445600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:111445000-111445600	Enhancers	Adipose Nuclei	Adipose
36	chr5:111445000-111445600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:111445000-111445600	Enhancers	HMEC	breast
38	chr5:111445000-111445800	Enhancers	NHLF	lung
39	chr5:111445000-111446200	Enhancers	Fetal Lung	lung
40	chr5:111445000-111447000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr5:111445200-111445600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:111445200-111445600	Enhancers	NHEK	skin
43	chr5:111445200-111446800	Weak transcription	Fetal Heart	heart
44	chr5:111445400-111445800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:111445400-111445800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:111445400-111445800	Enhancers	Liver	Liver
47	chr5:111445400-111445800	Enhancers	NHDF-Ad	bronchial
48	chr5:111445600-111446600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:111445600-111448000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:111445600-111448200	Weak transcription	Adipose Nuclei	Adipose

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