Variant report

Variant	esv1816467
Chromosome Location	chr1:186639800-186643058
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:8)

No data

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

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

No data

(count:8 , 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-181a-5p	chr1:186641444-186641464
3	PTGS2	hsa-miR-128-3p	chr1:186641341-186641361
4	PTGS2	hsa-miR-101-3p	chr1:186641747-186641740
5	PTGS2	hsa-miR-181a-5p	chr1:186641506-186641526
6	PTGS2	hsa-miR-132-3p	chr1:186642734-186642756
7	PTGS2	hsa-miR-137	chr1:186641803-186641825
8	PTGS2	hsa-miR-137	chr1:186642567-186642589

Variant related genes	Relation type
ENSG00000114745	chromatin interactions
ENSG00000168026	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs11567831	chr1:186639800-186639801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556572036	chr1:186639851-186639852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371652419	chr1:186639938-186639939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536039375	chr1:186639944-186639945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554430543	chr1:186640234-186640235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572535228	chr1:186640310-186640311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545988489	chr1:186640325-186640326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564456709	chr1:186640390-186640391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569758717	chr1:186640419-186640420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4648311	chr1:186640428-186640429	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189351575	chr1:186640439-186640440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377558164	chr1:186640454-186640455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561631879	chr1:186640474-186640475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529179071	chr1:186640500-186640501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4648310	chr1:186640525-186640526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146578605	chr1:186640566-186640567	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532816306	chr1:186640580-186640581	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs180672416	chr1:186640585-186640586	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs569773717	chr1:186640591-186640592	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4648309	chr1:186640614-186640615	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4648308	chr1:186640617-186640618	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190748919	chr1:186640638-186640639	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536174304	chr1:186640664-186640665	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs139126874	chr1:186640673-186640674	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149935897	chr1:186640692-186640693	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374840908	chr1:186640703-186640704	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs4648306	chr1:186640704-186640705	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs576513879	chr1:186640764-186640765	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182968257	chr1:186640796-186640797	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555362587	chr1:186640802-186640803	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553959202	chr1:186640820-186640821	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544874237	chr1:186640822-186640823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4648305	chr1:186640824-186640825	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs4648304	chr1:186640853-186640854	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs532344867	chr1:186640911-186640912	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200648161	chr1:186640938-186640939	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs201913348	chr1:186640952-186640953	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372262132	chr1:186641017-186641018	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs200076979	chr1:186641019-186641020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559271434	chr1:186641028-186641029	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs201039864	chr1:186641039-186641040	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs689470	chr1:186641058-186641059	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199824454	chr1:186641068-186641069	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545225542	chr1:186641086-186641087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185983564	chr1:186641104-186641105	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201348126	chr1:186641106-186641107	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs202092932	chr1:186641116-186641117	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs371722469	chr1:186641117-186641118	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201061872	chr1:186641120-186641121	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs559089418	chr1:186641126-186641127	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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	chr1:186630400-186640200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:186632600-186640200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:186632800-186640200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:186632800-186641400	Weak transcription	HUVEC	blood vessel
5	chr1:186632800-186642000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:186632800-186649000	Weak transcription	Fetal Lung	lung
7	chr1:186633000-186642200	Weak transcription	HMEC	breast
8	chr1:186633200-186642800	Weak transcription	NHEK	skin
9	chr1:186633200-186643600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:186633800-186640800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:186637600-186641400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:186638200-186641400	Weak transcription	NH-A	brain
13	chr1:186638400-186641800	Weak transcription	Hela-S3	cervix
14	chr1:186638600-186642200	Weak transcription	A549	lung
15	chr1:186639000-186641400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:186639000-186642200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:186639000-186643600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:186639200-186640200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:186639200-186641400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:186639400-186645000	Weak transcription	NHDF-Ad	bronchial
21	chr1:186639400-186648400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:186639600-186644600	Weak transcription	Small Intestine	intestine
23	chr1:186639800-186641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:186640200-186643200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:186640200-186643600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:186640200-186645000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:186640200-186646600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:186640200-186647800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:186640200-186647800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:186640800-186642000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:186640800-186647800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:186640800-186648000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:186640800-186648200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:186640800-186649200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:186641400-186642000	Strong transcription	Colon Smooth Muscle	Colon
36	chr1:186641400-186645000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:186641400-186645400	Strong transcription	HUVEC	blood vessel
38	chr1:186641400-186646000	Strong transcription	NH-A	brain
39	chr1:186641400-186647600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:186641600-186643600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:186641600-186647400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:186641600-186648400	Weak transcription	NHLF	lung
43	chr1:186641800-186643400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:186641800-186643400	Weak transcription	Fetal Muscle Leg	muscle
45	chr1:186641800-186643600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:186641800-186646400	Strong transcription	Hela-S3	cervix
47	chr1:186641800-186648400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr1:186642000-186642400	Genic enhancers	Colon Smooth Muscle	Colon
49	chr1:186642000-186642800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:186642000-186643600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links