Variant report

Variant	rs2483589
Chromosome Location	chr10:116365316-116365317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11814078	1.00[ASN][1000 genomes]
rs11816826	1.00[ASN][1000 genomes]
rs11817330	1.00[ASN][1000 genomes]
rs11817337	1.00[ASN][1000 genomes]
rs1413196	1.00[ASN][1000 genomes]
rs17092054	1.00[CHD][hapmap]
rs17092260	1.00[ASN][1000 genomes]
rs17092288	1.00[ASN][1000 genomes]
rs17092299	1.00[ASN][1000 genomes]
rs17092337	1.00[ASN][1000 genomes]
rs2483592	0.90[EUR][1000 genomes]
rs2497666	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497667	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59738549	1.00[ASN][1000 genomes]
rs60870849	1.00[ASN][1000 genomes]
rs61669564	1.00[ASN][1000 genomes]
rs61867889	1.00[ASN][1000 genomes]
rs61867917	1.00[ASN][1000 genomes]
rs61867918	1.00[ASN][1000 genomes]
rs61867919	1.00[ASN][1000 genomes]
rs61867923	1.00[ASN][1000 genomes]
rs61867924	1.00[ASN][1000 genomes]
rs61867925	1.00[ASN][1000 genomes]
rs61867929	1.00[ASN][1000 genomes]
rs61867933	1.00[ASN][1000 genomes]
rs61869065	1.00[ASN][1000 genomes]
rs61869066	1.00[ASN][1000 genomes]
rs61869068	1.00[ASN][1000 genomes]
rs61869069	1.00[ASN][1000 genomes]
rs61869071	1.00[ASN][1000 genomes]
rs7070890	1.00[ASN][1000 genomes]
rs7914325	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs7915853	1.00[ASN][1000 genomes]
rs9421195	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2483589	FAM160B1	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116345000-116382400	Weak transcription	HSMM	muscle
2	chr10:116352600-116367600	Weak transcription	Ovary	ovary
3	chr10:116354800-116378600	Weak transcription	Fetal Stomach	stomach
4	chr10:116355400-116371000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:116357600-116365600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:116359200-116366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:116360600-116365400	Weak transcription	Esophagus	oesophagus
8	chr10:116360600-116370600	Weak transcription	Lung	lung
9	chr10:116360600-116380600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:116361400-116379000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:116361600-116365400	Weak transcription	Fetal Intestine Small	intestine
12	chr10:116361600-116378200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:116361800-116365600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:116362400-116366000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:116362600-116365400	Enhancers	Brain Angular Gyrus	brain
16	chr10:116362600-116365600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:116362600-116365800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:116362600-116367600	Enhancers	Stomach Mucosa	stomach
19	chr10:116362800-116365600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr10:116362800-116365800	Enhancers	Brain Anterior Caudate	brain
21	chr10:116362800-116365800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr10:116363000-116365400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr10:116363000-116366000	Enhancers	HepG2	liver
24	chr10:116363600-116366000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr10:116363800-116365600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr10:116363800-116365600	Enhancers	HSMMtube	muscle
27	chr10:116363800-116365800	Enhancers	Hela-S3	cervix
28	chr10:116364000-116365600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:116364000-116365600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:116364000-116365600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr10:116364000-116365800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr10:116364000-116366600	Enhancers	Fetal Kidney	kidney
33	chr10:116364000-116368200	Enhancers	Adipose Nuclei	Adipose
34	chr10:116364200-116365400	Enhancers	Psoas Muscle	Psoas
35	chr10:116364200-116365400	Enhancers	K562	blood
36	chr10:116364200-116365800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:116364200-116366600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr10:116364200-116367200	Enhancers	Left Ventricle	heart
39	chr10:116364400-116365400	Enhancers	Small Intestine	intestine
40	chr10:116364400-116365800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr10:116364400-116365800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:116364400-116365800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:116364400-116365800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr10:116364600-116365400	Enhancers	Brain Hippocampus Middle	brain
45	chr10:116364600-116365600	Enhancers	Aorta	Aorta
46	chr10:116364600-116365800	Enhancers	Gastric	stomach
47	chr10:116364600-116365800	Flanking Active TSS	A549	lung
48	chr10:116364600-116366800	Enhancers	Right Atrium	heart
49	chr10:116364600-116367000	Enhancers	Liver	Liver
50	chr10:116364600-116367200	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links