Variant report

Variant	rs746566
Chromosome Location	chr5:114922047-114922048
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114630231..114632346-chr5:114921763..114923477,2	K562	blood:
2	chr5:114884946..114886999-chr5:114921116..114924631,3	K562	blood:
3	chr5:113014764..113015273-chr5:114921864..114922498,2	K562	blood:
4	chr5:114645535..114646139-chr5:114921972..114922517,2	MCF-7	breast:
5	chr5:114712822..114713353-chr5:114921928..114922705,2	MCF-7	breast:
6	chr5:114884555..114885428-chr5:114921974..114922869,2	K562	blood:
7	chr5:114919821..114922254-chr5:114958227..114960432,2	K562	blood:
8	chr5:114645258..114646128-chr5:114921954..114922997,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10038493	0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10043094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10053572	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs10055339	1.00[CEU][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10069695	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10073505	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10075869	0.84[EUR][1000 genomes]
rs10077239	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10079000	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1015812	0.89[ASN][1000 genomes]
rs13153908	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13184723	0.90[ASN][1000 genomes]
rs13356084	0.81[ASN][1000 genomes]
rs13357862	0.83[ASN][1000 genomes]
rs2032842	0.83[CHB][hapmap]
rs2052834	1.00[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2546484	0.88[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs256938	0.88[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs256965	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs256977	0.87[ASN][1000 genomes]
rs256989	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs256995	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372702	0.88[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs56104517	0.84[EUR][1000 genomes]
rs6860557	0.88[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6892071	0.81[ASN][1000 genomes]
rs6893854	0.88[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs6894123	0.88[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs766454	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9326970	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs746566	TICAM2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:114910400-114925200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr5:114910400-114929400	Weak transcription	Adipose Nuclei	Adipose
4	chr5:114911200-114935600	Weak transcription	Gastric	stomach
5	chr5:114911800-114922400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:114912000-114924600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
8	chr5:114913600-114924400	Weak transcription	Placenta	Placenta
9	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:114915200-114924600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:114915600-114924000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:114918600-114922800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:114918600-114922800	Enhancers	NHDF-Ad	bronchial
15	chr5:114919400-114930000	Weak transcription	HSMM	muscle
16	chr5:114919600-114923600	Weak transcription	Right Atrium	heart
17	chr5:114919600-114924400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:114919600-114924400	Weak transcription	Left Ventricle	heart
19	chr5:114919600-114924800	Weak transcription	Pancreas	Pancrea
20	chr5:114919800-114935600	Weak transcription	NH-A	brain
21	chr5:114920000-114929400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:114920000-114929600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:114920400-114929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:114920600-114929600	Weak transcription	Osteobl	bone
25	chr5:114920800-114922800	Enhancers	NHLF	lung
26	chr5:114921400-114925600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:114921600-114922400	Enhancers	GM12878-XiMat	blood
28	chr5:114921600-114922600	Weak transcription	Psoas Muscle	Psoas
29	chr5:114921600-114922600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:114921600-114923600	Weak transcription	Fetal Heart	heart
31	chr5:114921600-114924400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:114921600-114930000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:114921600-114935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:114921600-114935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:114921800-114922400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:114921800-114925000	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:114922000-114922400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:114922000-114922800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:114922000-114922800	Enhancers	Brain Angular Gyrus	brain
40	chr5:114922000-114922800	Enhancers	Brain Hippocampus Middle	brain

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