Variant report

Variant	nsv596900
Chromosome Location	chr5:2020274-2066165
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:1975910..1976629-chr5:2038577..2039238,2	MCF-7	breast:
2	chr5:2047496..2049550-chr5:2053975..2055514,2	MCF-7	breast:
3	chr5:2038305..2039189-chr5:4511874..4512776,3	MCF-7	breast:
4	chr5:2030283..2032438-chr5:2034042..2036561,2	MCF-7	breast:
5	chr5:2038456..2039644-chr5:2151099..2152060,8	MCF-7	breast:
6	chr5:2038968..2041290-chr5:2043648..2046348,2	K562	blood:
7	chr5:2038968..2041290-chr5:2043648..2046348,2	K562	blood:
8	chr5:1763381..1764606-chr5:2038413..2039439,5	MCF-7	breast:
9	chr5:1883446..1883946-chr5:2038442..2039397,2	K562	blood:
10	chr5:1881261..1883413-chr5:2029500..2031104,2	MCF-7	breast:
11	chr5:1667086..1668362-chr5:2038669..2039410,3	MCF-7	breast:
12	chr5:2030283..2032438-chr5:2034042..2036561,2	MCF-7	breast:
13	chr5:2038885..2040468-chr5:2043552..2045148,2	K562	blood:
14	chr5:2029324..2030194-chr7:140634224..140635140,2	MCF-7	breast:
15	chr5:2019358..2022288-chr5:2024372..2025880,2	K562	blood:
16	chr5:2041732..2043505-chr5:2044212..2047095,2	K562	blood:
17	chr5:1976228..1977009-chr5:2038725..2039367,2	MCF-7	breast:
18	chr5:2025237..2026884-chr5:2032844..2035842,2	K562	blood:
19	chr5:1794019..1795658-chr5:2041608..2044062,2	MCF-7	breast:
20	chr5:2054218..2056491-chr5:2059261..2061663,2	K562	blood:
21	chr5:2028233..2030258-chr5:2037202..2038966,2	MCF-7	breast:
22	chr5:2015069..2018561-chr5:2019623..2022570,4	K562	blood:
23	chr5:1763417..1764044-chr5:2038313..2038983,3	MCF-7	breast:
24	chr5:1763462..1764367-chr5:2038422..2039408,4	K562	blood:
25	chr5:1976483..1978834-chr5:2046754..2049581,2	MCF-7	breast:
26	chr5:2054218..2056491-chr5:2059261..2061663,2	K562	blood:
27	chr5:2019358..2022288-chr5:2024372..2025880,2	K562	blood:
28	chr5:2025237..2026884-chr5:2032844..2035842,2	K562	blood:
29	chr10:16562709..16563518-chr5:2038579..2039403,2	MCF-7	breast:
30	chr5:2047496..2049550-chr5:2053975..2055514,2	MCF-7	breast:
31	chr5:1667058..1667975-chr5:2038421..2039188,3	K562	blood:
32	chr5:2033165..2034764-chr5:2034966..2037818,2	K562	blood:
33	chr5:1772046..1773026-chr5:2038306..2039405,3	MCF-7	breast:
34	chr5:2038885..2040468-chr5:2043552..2045148,2	K562	blood:
35	chr5:2028233..2030258-chr5:2037202..2038966,2	MCF-7	breast:
36	chr5:2038644..2039215-chr5:2151129..2152096,3	K562	blood:
37	chr5:2038277..2039385-chr5:2150928..2152028,5	MCF-7	breast:
38	chr5:2038798..2040363-chr5:2040372..2041930,2	MCF-7	breast:
39	chr5:2033165..2034764-chr5:2034966..2037818,2	K562	blood:
40	chr5:2038798..2040363-chr5:2040372..2041930,2	MCF-7	breast:
41	chr5:2041732..2043505-chr5:2044212..2047095,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271611	chromatin interactions
ENSG00000113430	chromatin interactions
ENSG00000231291	chromatin interactions

Extended variants
information (count: 1940 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1940 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4074914	chr5:2020274-2020275	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372907121	chr5:2020314-2020315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572957667	chr5:2020338-2020339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540436569	chr5:2020342-2020343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142156351	chr5:2020345-2020346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573981851	chr5:2020362-2020363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186451144	chr5:2020378-2020379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377650677	chr5:2020406-2020407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533640035	chr5:2020421-2020422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563687572	chr5:2020424-2020425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530841871	chr5:2020441-2020442	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150781148	chr5:2020478-2020479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564441255	chr5:2020482-2020483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528613949	chr5:2020510-2020511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564609441	chr5:2020513-2020514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139156553	chr5:2020524-2020525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568353135	chr5:2020528-2020529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4076113	chr5:2020529-2020530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550164634	chr5:2020544-2020545	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551018388	chr5:2020570-2020571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568807634	chr5:2020574-2020575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144135029	chr5:2020611-2020612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557792682	chr5:2020613-2020614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572855949	chr5:2020637-2020638	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533922548	chr5:2020749-2020750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555591890	chr5:2020758-2020759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368902979	chr5:2020779-2020780	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533984408	chr5:2020785-2020786	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4073834	chr5:2020905-2020906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549447853	chr5:2020917-2020918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34957765	chr5:2020932-2020933	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397786219	chr5:2020944-2020945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573917106	chr5:2020945-2020946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115068978	chr5:2021031-2021032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562664728	chr5:2021047-2021048	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575562575	chr5:2021063-2021064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545888716	chr5:2021079-2021080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564550051	chr5:2021090-2021091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528552811	chr5:2021091-2021092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146518538	chr5:2021096-2021097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546721523	chr5:2021139-2021140	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373035498	chr5:2021167-2021168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75618432	chr5:2021173-2021174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75257875	chr5:2021212-2021213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73732532	chr5:2021231-2021232	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76355756	chr5:2021250-2021251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532892768	chr5:2021263-2021264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551087748	chr5:2021264-2021265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566513946	chr5:2021294-2021295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78900989	chr5:2021304-2021305	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16608533	CNVD
Cervical cancer	16585170	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Ovarian cancer	20844748	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	21829676	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19181860	CNVD
prenatal diagnosis	20453657	CNVD
Developmental delay	19490664	CNVD
Human papillomavirus	17975027	CNVD
Acute monocytic leukemia	16498392	CNVD
Gastric cancer	16891809	CNVD
Intracranial aneurysm	16715129	CNVD
Emphysema	19352772	CNVD
Chordoma	18071362	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
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
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
T-cell prolymphocytic leukemia	17713554	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
Oral cancer	22144094	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21364760	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2014800-2025000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:2016400-2021600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:2018800-2023800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:2020200-2021600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:2020600-2021000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:2020600-2021200	Enhancers	NHEK	skin
7	chr5:2021000-2021200	Enhancers	Esophagus	oesophagus
8	chr5:2021200-2022800	Weak transcription	NHEK	skin
9	chr5:2021600-2022600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:2021600-2022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:2022600-2024000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:2022800-2024000	Enhancers	NHEK	skin
13	chr5:2022800-2025200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:2025000-2025600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:2025000-2025600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:2025000-2025800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:2025200-2025400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:2025200-2025600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:2025200-2025600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:2025200-2025800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:2025200-2026000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr5:2025400-2026200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:2025600-2026200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:2026200-2026400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:2026200-2029800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:2026400-2028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:2028200-2029200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:2029200-2029600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:2029400-2030000	Enhancers	Fetal Stomach	stomach
30	chr5:2029400-2030600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:2029400-2031600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:2029600-2029800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:2029600-2029800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:2029600-2030000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:2029800-2030200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:2029800-2030200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:2029800-2030400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:2030000-2030800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:2030200-2030400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:2030200-2030800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:2030400-2030600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:2030400-2030800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:2030400-2030800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:2030400-2030800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:2030800-2031200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:2030800-2031600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:2030800-2032000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:2031600-2031800	Weak transcription	Pancreas	Pancrea
49	chr5:2031600-2032000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:2031600-2033000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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