Variant report

Variant	nsv527758
Chromosome Location	chr1:186452071-186456977
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186451676..186452264-chr1:186649134..186649775,2	MCF-7	breast:
2	chr1:186451575..186452285-chr1:186731133..186732059,2	MCF-7	breast:
3	chr1:186451494..186452439-chr1:186955128..186955670,2	K562	blood:
4	chr1:186451636..186452892-chr1:186574338..186575805,5	MCF-7	breast:
5	chr1:186451634..186452411-chr1:186954687..186955318,2	MCF-7	breast:
6	chr1:186451532..186452512-chr1:186651563..186652631,6	MCF-7	breast:
7	chr1:186451484..186452471-chr1:186775451..186776233,2	MCF-7	breast:
8	chr1:186373386..186374034-chr1:186451869..186452455,2	MCF-7	breast:
9	chr1:186451467..186452331-chr1:186574622..186575436,4	MCF-7	breast:
10	chr1:186451542..186452284-chr1:186651474..186652178,3	MCF-7	breast:
11	chr1:186451520..186452510-chr1:186775360..186775901,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273129	chromatin interactions
ENSG00000073756	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3131554	chr1:186452071-186452072	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3131553	chr1:186452101-186452102	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147618356	chr1:186452207-186452208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs549093718	chr1:186452233-186452234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541423161	chr1:186452251-186452252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142241521	chr1:186452256-186452257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs181096941	chr1:186452270-186452271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184382227	chr1:186452287-186452288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559537917	chr1:186452288-186452289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78008583	chr1:186452313-186452314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553550779	chr1:186452446-186452447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571759464	chr1:186452463-186452464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188147623	chr1:186452534-186452535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557096876	chr1:186452599-186452600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11590457	chr1:186452642-186452643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548869735	chr1:186452665-186452666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542924321	chr1:186452682-186452683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146124996	chr1:186452724-186452725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538280497	chr1:186452731-186452732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368991505	chr1:186452774-186452775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572510819	chr1:186452803-186452804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111671126	chr1:186452820-186452821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117446271	chr1:186452840-186452841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138974475	chr1:186452887-186452888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543872204	chr1:186452894-186452895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563920447	chr1:186452913-186452914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567106431	chr1:186452923-186452924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530965182	chr1:186452928-186452929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181981211	chr1:186452951-186452952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186519157	chr1:186453055-186453056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190957408	chr1:186453075-186453076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371859229	chr1:186453078-186453079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376920486	chr1:186453125-186453126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536160587	chr1:186453154-186453155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10911871	chr1:186453159-186453160	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181763638	chr1:186453206-186453207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146098320	chr1:186453209-186453210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs386637607	chr1:186453221-186453222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370990637	chr1:186453222-186453223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10911872	chr1:186453225-186453226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs371216481	chr1:186453228-186453229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569043922	chr1:186453232-186453233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536015265	chr1:186453244-186453245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377305557	chr1:186453251-186453252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554897719	chr1:186453253-186453254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10911873	chr1:186453313-186453314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186790878	chr1:186453320-186453321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373338842	chr1:186453414-186453415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143448239	chr1:186453417-186453418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576391833	chr1:186453433-186453434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186451000-186455800	Weak transcription	Osteobl	bone
2	chr1:186451600-186452600	Enhancers	Hela-S3	cervix
3	chr1:186451600-186453200	Enhancers	HUVEC	blood vessel
4	chr1:186451800-186452200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:186451800-186452400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:186451800-186452400	Enhancers	NHEK	skin
7	chr1:186451800-186452800	Enhancers	A549	lung
8	chr1:186452000-186452400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:186452200-186454800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:186452200-186467800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:186452400-186452600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:186452400-186452800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:186452400-186453000	Enhancers	HMEC	breast
14	chr1:186452400-186455800	Weak transcription	NHEK	skin
15	chr1:186452400-186468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:186452600-186453200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:186452600-186455000	Weak transcription	Hela-S3	cervix
18	chr1:186452600-186455200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:186452800-186455200	Weak transcription	A549	lung
20	chr1:186452800-186455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:186453000-186453800	Weak transcription	HMEC	breast
22	chr1:186453200-186461400	Weak transcription	HUVEC	blood vessel
23	chr1:186453200-186461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:186453800-186454000	Enhancers	HMEC	breast
25	chr1:186454800-186456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:186455000-186455200	Enhancers	Hela-S3	cervix
27	chr1:186455200-186455600	Weak transcription	Hela-S3	cervix
28	chr1:186455200-186456000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:186455200-186457000	Enhancers	A549	lung
30	chr1:186455600-186456400	Enhancers	Hela-S3	cervix
31	chr1:186455800-186456400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:186455800-186456400	Enhancers	NHEK	skin
33	chr1:186455800-186456800	Enhancers	Osteobl	bone
34	chr1:186456000-186457400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:186456000-186461800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:186456200-186457000	Enhancers	NHDF-Ad	bronchial
37	chr1:186456400-186457200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:186456400-186459400	Weak transcription	NHEK	skin
39	chr1:186456400-186461600	Weak transcription	Hela-S3	cervix
40	chr1:186456800-186461400	Weak transcription	Osteobl	bone

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