Variant report

Variant	esv1008470
Chromosome Location	chr3:81592059-81602167
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:81596549..81599236-chr3:81601556..81604295,2	K562	blood:
2	chr17:57120862..57121542-chr3:81600136..81600921,2	MCF-7	breast:
3	chr3:81596549..81599236-chr3:81601556..81604295,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-8	chr3:81597025-81598649	NONHSAT090615
2	lnc-CADM2-8	chr3:81598550-81598657	ENSG00000249130
3	lnc-CADM2-8	chr3:81597097-81598171	ENSG00000249130

No data

Variant related genes	Relation type
KIAA1598	miRNA target sites
SLC25A22	miRNA target sites

Extended variants
information (count: 390 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534860035	chr3:81592123-81592124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116264731	chr3:81592133-81592134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567798939	chr3:81592170-81592171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376258503	chr3:81592218-81592219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536784159	chr3:81592229-81592230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566263953	chr3:81592275-81592276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114402031	chr3:81592277-81592278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371330858	chr3:81592281-81592282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142316815	chr3:81592305-81592306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553279362	chr3:81592371-81592372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573205819	chr3:81592409-81592410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542031942	chr3:81592459-81592460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182887837	chr3:81592486-81592487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151304568	chr3:81592502-81592503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552203117	chr3:81592510-81592511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568769625	chr3:81592538-81592539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370842624	chr3:81592548-81592549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537842241	chr3:81592554-81592555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543506507	chr3:81592565-81592566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1907881	chr3:81592578-81592579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554952927	chr3:81592579-81592580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568341962	chr3:81592588-81592589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140642430	chr3:81592690-81592691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187439234	chr3:81592771-81592772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192594817	chr3:81592878-81592879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534014458	chr3:81592939-81592940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374496116	chr3:81592958-81592959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6800295	chr3:81593011-81593012	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144509274	chr3:81593018-81593019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548361868	chr3:81593046-81593047	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568605433	chr3:81593114-81593115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537651321	chr3:81593153-81593154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114844862	chr3:81593208-81593209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570551733	chr3:81593288-81593289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539420783	chr3:81593299-81593300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111816310	chr3:81593348-81593349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573167110	chr3:81593360-81593361	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140841945	chr3:81593419-81593420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150083090	chr3:81593426-81593427	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141781698	chr3:81593443-81593444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367914647	chr3:81593471-81593472	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545172110	chr3:81593510-81593511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558966028	chr3:81593562-81593563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138500163	chr3:81593592-81593593	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184576344	chr3:81593613-81593614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563602820	chr3:81593616-81593617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577294993	chr3:81593618-81593619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545776322	chr3:81593627-81593628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372179508	chr3:81593675-81593676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148855727	chr3:81593686-81593687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81581400-81593200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:81581600-81628200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:81582800-81592800	Weak transcription	Fetal Lung	lung
4	chr3:81582800-81597000	Weak transcription	Primary B cells from cord blood	blood
5	chr3:81582800-81613200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:81583000-81598200	Weak transcription	NH-A	brain
7	chr3:81583200-81596200	Weak transcription	Right Ventricle	heart
8	chr3:81583400-81603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:81583400-81613200	Weak transcription	Lung	lung
10	chr3:81583600-81596200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:81583600-81613200	Weak transcription	Primary T cells from cord blood	blood
12	chr3:81583600-81625600	Weak transcription	HUVEC	blood vessel
13	chr3:81583800-81599400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:81583800-81603400	Weak transcription	NHLF	lung
15	chr3:81583800-81608000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:81583800-81608000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:81584200-81598600	Weak transcription	Osteobl	bone
18	chr3:81584200-81604000	Weak transcription	Aorta	Aorta
19	chr3:81584200-81636600	Weak transcription	Placenta	Placenta
20	chr3:81584400-81596400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:81584400-81603400	Weak transcription	HSMMtube	muscle
22	chr3:81584600-81596400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:81584600-81598000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:81584600-81612200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:81584600-81613000	Weak transcription	Ovary	ovary
26	chr3:81584800-81596200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:81584800-81610400	Weak transcription	HSMM	muscle
28	chr3:81585400-81596800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:81585400-81597200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:81585400-81599800	Weak transcription	Psoas Muscle	Psoas
31	chr3:81586200-81595000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:81586200-81599400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:81586200-81610800	Weak transcription	Adipose Nuclei	Adipose
34	chr3:81588400-81612200	Weak transcription	Left Ventricle	heart
35	chr3:81588600-81603200	Weak transcription	Liver	Liver
36	chr3:81589000-81596200	Weak transcription	NHDF-Ad	bronchial
37	chr3:81589000-81596400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:81589600-81593000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:81589800-81593200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:81591000-81593200	Weak transcription	Dnd41	blood
41	chr3:81591000-81600600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:81592800-81594200	Enhancers	Fetal Lung	lung
43	chr3:81593000-81598600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:81593200-81593600	Strong transcription	Dnd41	blood
45	chr3:81593200-81594000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:81593200-81595000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:81593600-81594600	Weak transcription	Dnd41	blood
48	chr3:81594000-81596200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr3:81594200-81594600	Weak transcription	Fetal Lung	lung
50	chr3:81594600-81594800	Enhancers	Fetal Lung	lung

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