Variant report

Variant	nsv600498
Chromosome Location	chr5:178645310-178698709
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
2	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:
3	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
4	chr5:178570556..178571105-chr5:178687987..178688905,2	MCF-7	breast:
5	chr5:178662646..178664463-chr5:178900746..178903231,2	K562	blood:
6	chr5:178694647..178697268-chr5:179049140..179050881,2	MCF-7	breast:
7	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
8	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
9	chr5:178652878..178655223-chr5:178665952..178668603,2	K562	blood:
10	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
11	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
12	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
13	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
14	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
15	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
16	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
17	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
18	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
19	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
20	chr5:178219952..178220766-chr5:178688074..178688887,3	MCF-7	breast:
21	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
22	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
23	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
24	chr5:178652878..178655223-chr5:178665952..178668603,2	K562	blood:
25	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
26	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:
27	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169045	chromatin interactions

Extended variants
information (count: 2585 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2585 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs461898	chr5:178645310-178645311	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73331552	chr5:178645325-178645326	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540239806	chr5:178645326-178645327	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564911718	chr5:178645366-178645367	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576757144	chr5:178645425-178645426	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544322072	chr5:178645430-178645431	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374758457	chr5:178645473-178645474	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184976694	chr5:178645478-178645479	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531150299	chr5:178645523-178645524	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570980091	chr5:178645609-178645610	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549138484	chr5:178645627-178645628	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561250046	chr5:178645637-178645638	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55885988	chr5:178645638-178645639	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569555127	chr5:178645645-178645646	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370695971	chr5:178645665-178645666	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571664676	chr5:178645698-178645699	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114118063	chr5:178645702-178645703	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190195322	chr5:178645703-178645704	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566632601	chr5:178645729-178645730	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs389558	chr5:178645742-178645743	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs554761926	chr5:178645743-178645744	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115485260	chr5:178645758-178645759	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534126363	chr5:178645760-178645761	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558549602	chr5:178645772-178645773	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs466752	chr5:178645802-178645803	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543827701	chr5:178645849-178645850	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs556245375	chr5:178645874-178645875	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs574402945	chr5:178645909-178645910	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs542821635	chr5:178645916-178645917	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs536542124	chr5:178645925-178645926	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs182379614	chr5:178645934-178645935	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs112419043	chr5:178645937-178645938	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs146112704	chr5:178645977-178645978	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs535982118	chr5:178646001-178646002	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs455655	chr5:178646058-178646059	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572533806	chr5:178646063-178646064	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs550674231	chr5:178646075-178646076	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs569341332	chr5:178646138-178646139	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs116128017	chr5:178646157-178646158	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs463435	chr5:178646193-178646194	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs186939653	chr5:178646212-178646213	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113457705	chr5:178646214-178646215	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34305458	chr5:178646215-178646216	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533958413	chr5:178646230-178646231	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77663670	chr5:178646250-178646251	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7704836	chr5:178646288-178646289	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs116471632	chr5:178646307-178646308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570650173	chr5:178646318-178646319	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554622994	chr5:178646365-178646366	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575448242	chr5:178646367-178646368	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178619800-178650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:178620200-178650200	Weak transcription	Fetal Lung	lung
3	chr5:178631800-178649800	Weak transcription	Gastric	stomach
4	chr5:178638200-178656600	Weak transcription	HSMMtube	muscle
5	chr5:178638800-178647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:178640600-178645800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:178642600-178645800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:178642800-178645400	Enhancers	NHDF-Ad	bronchial
9	chr5:178643000-178646200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:178643800-178646200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:178644000-178646200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:178644200-178645400	Enhancers	NHLF	lung
13	chr5:178644200-178646000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:178644200-178654200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:178644600-178646600	Enhancers	Fetal Stomach	stomach
16	chr5:178644600-178647600	Enhancers	Ovary	ovary
17	chr5:178644600-178653800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:178644800-178645800	Enhancers	Fetal Muscle Trunk	muscle
19	chr5:178644800-178646600	Enhancers	Placenta	Placenta
20	chr5:178644800-178650600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:178645000-178645600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:178645000-178646800	Enhancers	Spleen	Spleen
23	chr5:178645000-178650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:178645000-178650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:178645000-178651800	Weak transcription	HSMM	muscle
26	chr5:178645000-178667800	Weak transcription	Right Atrium	heart
27	chr5:178645200-178645600	Weak transcription	Adipose Nuclei	Adipose
28	chr5:178645200-178646600	Enhancers	Fetal Muscle Leg	muscle
29	chr5:178645200-178647200	Enhancers	Primary hematopoietic stem cells	blood
30	chr5:178645200-178647400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:178645200-178650200	Weak transcription	Osteobl	bone
32	chr5:178645200-178650400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:178645400-178646000	Weak transcription	NHLF	lung
34	chr5:178645600-178646200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:178645600-178646200	Enhancers	Adipose Nuclei	Adipose
36	chr5:178645600-178646200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr5:178645800-178646200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:178645800-178646200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr5:178645800-178647200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr5:178645800-178649000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:178646000-178646200	Enhancers	NHLF	lung
42	chr5:178646000-178646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:178646000-178647200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:178646000-178647200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:178646200-178646400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr5:178646200-178647400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:178646200-178647800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:178646200-178650200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:178646200-178650400	Weak transcription	NHLF	lung
50	chr5:178646200-178650600	Weak transcription	Adipose Nuclei	Adipose

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