Variant report

Variant	nsv600453
Chromosome Location	chr5:178252366-178259787
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178250289..178252809-chr5:178285949..178288752,2	K562	blood:
2	chr5:178252394..178254113-chr5:178255346..178258174,3	K562	blood:
3	chr5:178250159..178253046-chr5:178256116..178259012,3	MCF-7	breast:
4	chr5:178258610..178261483-chr5:178285999..178288925,2	K562	blood:
5	chr5:178228775..178231759-chr5:178257850..178260513,2	MCF-7	breast:
6	chr5:178156362..178158364-chr5:178252776..178254974,2	K562	blood:
7	chr5:178251481..178253894-chr5:178255525..178257493,2	K562	blood:
8	chr5:178252394..178254113-chr5:178255346..178258174,3	K562	blood:
9	chr5:178248233..178250497-chr5:178253238..178254765,2	K562	blood:
10	chr5:178250159..178253046-chr5:178256116..178259012,3	MCF-7	breast:
11	chr5:178256899..178257517-chr5:178489612..178490272,2	K562	blood:
12	chr5:178251481..178253894-chr5:178255525..178257493,2	K562	blood:
13	chr5:178251204..178253302-chr5:178256012..178257744,2	MCF-7	breast:
14	chr5:178251204..178253302-chr5:178256012..178257744,2	MCF-7	breast:
15	chr5:178219910..178220433-chr5:178257274..178257901,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169131	chromatin interactions
ENSG00000178338	chromatin interactions

Extended variants
information (count: 488 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10068395	chr5:178252366-178252367	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142573217	chr5:178252377-178252378	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374649061	chr5:178252378-178252379	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182780326	chr5:178252391-178252392	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75301083	chr5:178252406-178252407	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186742693	chr5:178252427-178252428	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545457077	chr5:178252459-178252460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532231939	chr5:178252511-178252512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371500280	chr5:178252532-178252533	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141891162	chr5:178252534-178252535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548756720	chr5:178252535-178252536	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552331731	chr5:178252542-178252543	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34965336	chr5:178252600-178252601	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567169053	chr5:178252669-178252670	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528363793	chr5:178252686-178252687	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191595561	chr5:178252704-178252705	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571185695	chr5:178252735-178252736	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184909152	chr5:178252739-178252740	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6600966	chr5:178252776-178252777	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74527454	chr5:178252799-178252800	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs36073436	chr5:178252896-178252897	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6600967	chr5:178252906-178252907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115173203	chr5:178252933-178252934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6600968	chr5:178252940-178252941	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541676949	chr5:178252947-178252948	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6600969	chr5:178252960-178252961	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577922177	chr5:178252973-178252974	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78598007	chr5:178252976-178252977	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563383361	chr5:178252978-178252979	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6600970	chr5:178253074-178253075	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193105323	chr5:178253094-178253095	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185137919	chr5:178253165-178253166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74293410	chr5:178253177-178253178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190064193	chr5:178253183-178253184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs565033686	chr5:178253207-178253208	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532481243	chr5:178253217-178253218	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs567717696	chr5:178253230-178253231	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs386695525	chr5:178253260-178253261	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs386695526	chr5:178253261-178253262	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7447735	chr5:178253265-178253266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548322367	chr5:178253274-178253275	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567820096	chr5:178253278-178253279	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12659865	chr5:178253285-178253286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553590577	chr5:178253292-178253293	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs578180236	chr5:178253345-178253346	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139254570	chr5:178253377-178253378	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs556913363	chr5:178253407-178253408	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12659899	chr5:178253431-178253432	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149923105	chr5:178253486-178253487	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71587692	chr5:178253488-178253489	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178236800-178255800	Weak transcription	K562	blood
2	chr5:178241200-178252400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:178251800-178252400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:178252200-178253200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:178252400-178252600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:178252400-178253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:178252400-178253400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:178252400-178254000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:178252400-178254600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:178252400-178255000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:178252600-178253000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:178252600-178253200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:178252600-178254200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:178252600-178254400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:178252600-178254400	Enhancers	HMEC	breast
16	chr5:178252600-178254600	Enhancers	NHEK	skin
17	chr5:178252600-178255000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:178252800-178253400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:178252800-178254000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:178252800-178254400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:178253000-178253200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:178253200-178255800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:178253200-178256000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:178253200-178257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:178253200-178257800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:178253400-178253800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:178253400-178254000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:178253800-178255000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr5:178254000-178254200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr5:178254000-178255800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:178254000-178259400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:178254200-178259400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:178254400-178258200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:178254600-178256800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:178255000-178255800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:178255000-178256000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:178255000-178257000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:178255800-178256000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:178255800-178256400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:178255800-178256600	Strong transcription	K562	blood
41	chr5:178255800-178257200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:178255800-178257200	Bivalent Enhancer	Fetal Brain Male	brain
43	chr5:178255800-178257600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:178256000-178256600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:178256000-178256800	Enhancers	Adipose Nuclei	Adipose
46	chr5:178256000-178257200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:178256400-178257200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:178256400-178258600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:178256600-178257000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:178256600-178258200	Weak transcription	K562	blood

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