Variant report

Variant	nsv1016024
Chromosome Location	chr5:119460796-119509057
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	chr5:119490690..119493114-chr7:5464157..5466979,2	MCF-7	breast:
2	chr5:119457407..119460056-chr5:119489321..119491015,2	K562	blood:

Variant related genes	Relation type
ENSG00000272953	chromatin interactions
ENSG00000182095	chromatin interactions

Extended variants
information (count: 1483 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1483 , 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	rs10519624	chr5:119460796-119460797	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560138994	chr5:119460868-119460869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367934350	chr5:119460871-119460872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147032753	chr5:119460893-119460894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75171697	chr5:119460918-119460919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531302611	chr5:119461026-119461027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551410369	chr5:119461027-119461028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182022949	chr5:119461041-119461042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79673171	chr5:119461085-119461086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369614430	chr5:119461143-119461144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547168418	chr5:119461144-119461145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76175441	chr5:119461181-119461182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549702363	chr5:119467207-119467208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190976458	chr5:119467226-119467227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532228184	chr5:119467249-119467250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7447704	chr5:119467270-119467271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28783703	chr5:119467283-119467284	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140034747	chr5:119467326-119467327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145567816	chr5:119467331-119467332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567609851	chr5:119467333-119467334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536984843	chr5:119467352-119467353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556461394	chr5:119467365-119467366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182223727	chr5:119467385-119467386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151114570	chr5:119467455-119467456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4446498	chr5:119467479-119467480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572575844	chr5:119467487-119467488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140039761	chr5:119467490-119467491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561307493	chr5:119467495-119467496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149765680	chr5:119467503-119467504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187367039	chr5:119467512-119467513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145726062	chr5:119467559-119467560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140524567	chr5:119467562-119467563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62376988	chr5:119467581-119467582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565431999	chr5:119467582-119467583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62376989	chr5:119467594-119467595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145675029	chr5:119467613-119467614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547765082	chr5:119467620-119467621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567747688	chr5:119467654-119467655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536670699	chr5:119467665-119467666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563726511	chr5:119467668-119467669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191738113	chr5:119467710-119467711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570265206	chr5:119467718-119467719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182885647	chr5:119467727-119467728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552409857	chr5:119467734-119467735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4446499	chr5:119467737-119467738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572563896	chr5:119467755-119467756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187183221	chr5:119467778-119467779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546835680	chr5:119467787-119467788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555122207	chr5:119467790-119467791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57077232	chr5:119467794-119467795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119460400-119461200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:119460400-119461200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:119460800-119461200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:119460800-119461200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:119460800-119461200	Enhancers	HSMMtube	muscle
6	chr5:119460800-119461200	Enhancers	NHDF-Ad	bronchial
7	chr5:119467200-119467800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:119467800-119468200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:119467800-119468600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
10	chr5:119467800-119468800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr5:119467800-119468800	Enhancers	Dnd41	blood
12	chr5:119468000-119468800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr5:119468000-119469000	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:119468200-119468800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:119468600-119472000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:119468800-119469200	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr5:119469000-119473200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:119469200-119473400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr5:119471200-119471600	Enhancers	Ovary	ovary
20	chr5:119471400-119472000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:119471600-119473400	Weak transcription	Ovary	ovary
22	chr5:119471800-119472000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:119472000-119472200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:119472000-119473200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:119472200-119472600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr5:119472400-119474400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:119472600-119477400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:119473200-119474400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:119473200-119474800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:119473200-119480600	Weak transcription	Pancreas	Pancrea
31	chr5:119473400-119473600	ZNF genes & repeats	Placenta	Placenta
32	chr5:119473400-119473600	Enhancers	Left Ventricle	heart
33	chr5:119473400-119473800	Enhancers	Aorta	Aorta
34	chr5:119473400-119474400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:119473400-119474800	Enhancers	Ovary	ovary
36	chr5:119473600-119474200	Weak transcription	Placenta	Placenta
37	chr5:119473800-119475400	Weak transcription	Aorta	Aorta
38	chr5:119473800-119476400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:119474000-119476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:119474200-119474400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:119474200-119474400	Enhancers	Placenta	Placenta
42	chr5:119474200-119474400	Enhancers	Left Ventricle	heart
43	chr5:119474200-119475200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:119474200-119475600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:119474200-119475600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:119474200-119476600	Enhancers	Hela-S3	cervix
47	chr5:119474200-119476600	Enhancers	NHLF	lung
48	chr5:119474200-119477400	Enhancers	NHDF-Ad	bronchial
49	chr5:119474200-119477600	Enhancers	Fetal Lung	lung
50	chr5:119474400-119474600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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