Variant report

Variant	nsv872591
Chromosome Location	chr1:186640853-186643541
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:186641962..186644518-chr1:186645424..186648177,2	MCF-7	breast:
2	chr1:186640538..186641404-chr3:39148538..39149164,2	Hela-S3	cervix:
3	chr1:186638420..186641354-chr1:186642011..186644498,2	MCF-7	breast:
4	chr1:186637647..186639575-chr1:186642756..186645000,2	K562	blood:
5	chr1:186631541..186633965-chr1:186639110..186642101,3	MCF-7	breast:
6	chr1:186638420..186641354-chr1:186642011..186644498,2	MCF-7	breast:

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PTGS2	hsa-miR-101-3p	chr1:186641741-186641759
2	PTGS2	hsa-miR-137	chr1:186642567-186642589
3	PTGS2	hsa-miR-26b-5p	chr1:186643221-186643239
4	PTGS2	hsa-miR-181a-5p	chr1:186641506-186641526
5	PTGS2	hsa-miR-26b-5p	chr1:186643227-186643220
6	PTGS2	hsa-miR-128-3p	chr1:186641341-186641361
7	PTGS2	hsa-miR-132-3p	chr1:186642734-186642756
8	PTGS2	hsa-miR-101-3p	chr1:186641747-186641740
9	PTGS2	hsa-miR-137	chr1:186641803-186641825
10	PTGS2	hsa-miR-181a-5p	chr1:186641444-186641464

Variant related genes	Relation type
ENSG00000114745	chromatin interactions
ENSG00000168026	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs4648304	chr1:186640853-186640854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532344867	chr1:186640911-186640912	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200648161	chr1:186640938-186640939	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201913348	chr1:186640952-186640953	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs372262132	chr1:186641017-186641018	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200076979	chr1:186641019-186641020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559271434	chr1:186641028-186641029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201039864	chr1:186641039-186641040	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs689470	chr1:186641058-186641059	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199824454	chr1:186641068-186641069	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545225542	chr1:186641086-186641087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs185983564	chr1:186641104-186641105	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201348126	chr1:186641106-186641107	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs202092932	chr1:186641116-186641117	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371722469	chr1:186641117-186641118	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201061872	chr1:186641120-186641121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559089418	chr1:186641126-186641127	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs13306038	chr1:186641127-186641128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201156755	chr1:186641131-186641132	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs191788711	chr1:186641157-186641158	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200642986	chr1:186641159-186641160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs689469	chr1:186641197-186641198	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4648303	chr1:186641198-186641199	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4648302	chr1:186641218-186641219	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201684522	chr1:186641231-186641232	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs369883147	chr1:186641239-186641240	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs199854202	chr1:186641252-186641253	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs689468	chr1:186641265-186641266	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs689467	chr1:186641273-186641274	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547558694	chr1:186641298-186641299	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200027430	chr1:186641316-186641317	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200985751	chr1:186641317-186641318	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs183201650	chr1:186641318-186641319	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200097577	chr1:186641341-186641342	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
35	rs200883517	chr1:186641345-186641346	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
36	rs201730694	chr1:186641356-186641357	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	Overlapped CNVs	n/a
37	rs4648301	chr1:186641358-186641359	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs201006478	chr1:186641376-186641377	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs202089327	chr1:186641395-186641396	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188254107	chr1:186641396-186641397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201360946	chr1:186641398-186641399	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs199834448	chr1:186641408-186641409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4648300	chr1:186641411-186641412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201415472	chr1:186641432-186641433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199626279	chr1:186641441-186641442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541069205	chr1:186641461-186641462	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
47	rs200531158	chr1:186641527-186641528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201917612	chr1:186641536-186641537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552834364	chr1:186641539-186641540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4648299	chr1:186641577-186641578	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186632800-186641400	Weak transcription	HUVEC	blood vessel
2	chr1:186632800-186642000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:186632800-186649000	Weak transcription	Fetal Lung	lung
4	chr1:186633000-186642200	Weak transcription	HMEC	breast
5	chr1:186633200-186642800	Weak transcription	NHEK	skin
6	chr1:186633200-186643600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:186637600-186641400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:186638200-186641400	Weak transcription	NH-A	brain
9	chr1:186638400-186641800	Weak transcription	Hela-S3	cervix
10	chr1:186638600-186642200	Weak transcription	A549	lung
11	chr1:186639000-186641400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:186639000-186642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186639000-186643600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:186639200-186641400	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:186639400-186645000	Weak transcription	NHDF-Ad	bronchial
16	chr1:186639400-186648400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:186639600-186644600	Weak transcription	Small Intestine	intestine
18	chr1:186639800-186641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:186640200-186643200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:186640200-186643600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:186640200-186645000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:186640200-186646600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:186640200-186647800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:186640200-186647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:186640800-186642000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:186640800-186647800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:186640800-186648000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:186640800-186648200	Weak transcription	Brain Angular Gyrus	brain
29	chr1:186640800-186649200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:186641400-186642000	Strong transcription	Colon Smooth Muscle	Colon
31	chr1:186641400-186645000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr1:186641400-186645400	Strong transcription	HUVEC	blood vessel
33	chr1:186641400-186646000	Strong transcription	NH-A	brain
34	chr1:186641400-186647600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:186641600-186643600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:186641600-186647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:186641600-186648400	Weak transcription	NHLF	lung
38	chr1:186641800-186643400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:186641800-186643400	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:186641800-186643600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:186641800-186646400	Strong transcription	Hela-S3	cervix
42	chr1:186641800-186648400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr1:186642000-186642400	Genic enhancers	Colon Smooth Muscle	Colon
44	chr1:186642000-186642800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:186642000-186643600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:186642000-186643600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:186642000-186643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:186642000-186643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:186642000-186643600	Weak transcription	Adipose Nuclei	Adipose
50	chr1:186642000-186643600	Weak transcription	Aorta	Aorta

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