Variant report

Variant	nsv1027244
Chromosome Location	chr5:52631507-52644776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:52642800..52645145-chr5:52658314..52660881,2	K562	blood:
2	chr5:52557875..52558873-chr5:52630604..52631511,3	MCF-7	breast:
3	chr5:52639118..52641979-chr5:52646001..52647528,2	MCF-7	breast:
4	chr5:52634537..52635379-chr5:52772608..52773561,2	MCF-7	breast:

Extended variants
information (count: 539 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1423422	chr5:52631507-52631508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576872229	chr5:52631514-52631515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569764748	chr5:52631532-52631533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147285267	chr5:52631536-52631537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552402315	chr5:52631542-52631543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148449337	chr5:52631543-52631544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141751750	chr5:52631575-52631576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546619117	chr5:52631618-52631619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375848731	chr5:52631619-52631620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75094953	chr5:52631729-52631730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535762374	chr5:52631760-52631761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530976599	chr5:52631784-52631785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557501682	chr5:52631801-52631802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575751943	chr5:52631805-52631806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537108937	chr5:52631810-52631811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377453188	chr5:52631833-52631834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77333810	chr5:52631841-52631842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577058801	chr5:52631895-52631896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150579716	chr5:52631902-52631903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553018884	chr5:52631949-52631950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs37779	chr5:52632018-52632019	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574748308	chr5:52632019-52632020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541777116	chr5:52632034-52632035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563459643	chr5:52632108-52632109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545627247	chr5:52632126-52632127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548906302	chr5:52632185-52632186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139638701	chr5:52632188-52632189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552397396	chr5:52632192-52632193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564403132	chr5:52632206-52632207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528598302	chr5:52632234-52632235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190767563	chr5:52632235-52632236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372489348	chr5:52632254-52632255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62359873	chr5:52632291-52632292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192191373	chr5:52632315-52632316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183692240	chr5:52632317-52632318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115102894	chr5:52632341-52632342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188352095	chr5:52632349-52632350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558356409	chr5:52632374-52632375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146185019	chr5:52632376-52632377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534720967	chr5:52632425-52632426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552974789	chr5:52632432-52632433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139134471	chr5:52632451-52632452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372497550	chr5:52632454-52632455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144039659	chr5:52632504-52632505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563433787	chr5:52632510-52632511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530338505	chr5:52632552-52632553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575525818	chr5:52632579-52632580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181223202	chr5:52632601-52632602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184126779	chr5:52632681-52632682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528536701	chr5:52632705-52632706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52620200-52633600	Weak transcription	Esophagus	oesophagus
2	chr5:52626000-52631600	Enhancers	NHLF	lung
3	chr5:52626000-52640000	Enhancers	HMEC	breast
4	chr5:52626200-52631600	Enhancers	NHDF-Ad	bronchial
5	chr5:52626400-52631800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:52626600-52631600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:52626800-52631600	Enhancers	Osteobl	bone
8	chr5:52629000-52631600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:52629000-52631600	Enhancers	Hela-S3	cervix
10	chr5:52629000-52631600	Enhancers	HSMM	muscle
11	chr5:52629200-52632000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:52629600-52632000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:52629600-52634000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:52629800-52631600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:52630000-52633800	Enhancers	NHEK	skin
16	chr5:52630200-52631600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:52630400-52631600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:52630800-52631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:52631200-52633800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:52631400-52633800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:52631400-52634600	Weak transcription	Aorta	Aorta
22	chr5:52631600-52633400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:52631600-52633400	Weak transcription	NHDF-Ad	bronchial
24	chr5:52631600-52633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:52631600-52633600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:52631600-52633600	Weak transcription	NHLF	lung
27	chr5:52631600-52634800	Weak transcription	Hela-S3	cervix
28	chr5:52631600-52635600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:52631600-52635800	Weak transcription	Osteobl	bone
30	chr5:52631600-52639000	Weak transcription	HSMM	muscle
31	chr5:52631800-52632600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:52631800-52633400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:52632000-52635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:52632000-52636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:52632600-52634400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:52633400-52634200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:52633400-52634200	Enhancers	NHDF-Ad	bronchial
38	chr5:52633400-52634400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:52633600-52634000	Enhancers	Esophagus	oesophagus
40	chr5:52633600-52634200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:52633600-52634200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:52633600-52634200	Enhancers	NHLF	lung
43	chr5:52633800-52634200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:52633800-52634200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:52633800-52635400	Flanking Active TSS	NHEK	skin
46	chr5:52634000-52634200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:52634000-52634400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:52634000-52639600	Weak transcription	Esophagus	oesophagus
49	chr5:52634200-52634400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:52634200-52634600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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