Variant report

Variant	rs256969
Chromosome Location	chr5:114934078-114934079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114933628..114936434-chr5:114936724..114940118,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249249	Chromatin interaction
ENSG00000243414	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10055677	0.92[EUR][1000 genomes]
rs12187973	0.80[ASN][1000 genomes]
rs13164545	0.87[EUR][1000 genomes]
rs13186296	0.91[EUR][1000 genomes]
rs171774	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs173965	0.91[ASN][1000 genomes]
rs173966	0.92[ASN][1000 genomes]
rs2303747	0.87[EUR][1000 genomes]
rs2559990	0.85[ASN][1000 genomes]
rs256942	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs256943	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs256944	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256945	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256947	0.92[EUR][1000 genomes]
rs256948	0.93[EUR][1000 genomes]
rs256949	0.92[EUR][1000 genomes]
rs256950	0.92[EUR][1000 genomes]
rs256951	0.92[EUR][1000 genomes]
rs256952	0.92[EUR][1000 genomes]
rs256953	0.92[EUR][1000 genomes]
rs256954	0.92[EUR][1000 genomes]
rs256964	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs256967	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs256968	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs256970	0.91[ASN][1000 genomes]
rs256971	0.90[ASN][1000 genomes]
rs256972	0.90[ASN][1000 genomes]
rs256978	0.87[ASN][1000 genomes]
rs256984	0.90[ASN][1000 genomes]
rs256986	0.90[ASN][1000 genomes]
rs256987	0.93[ASN][1000 genomes]
rs256988	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256991	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256993	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256994	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs256996	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs256997	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256998	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs377290	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3822579	0.91[EUR][1000 genomes]
rs387718	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs400570	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs413059	0.91[EUR][1000 genomes]
rs415577	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4920967	0.90[EUR][1000 genomes]
rs698366	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs698367	0.92[EUR][1000 genomes]
rs7702283	0.92[EUR][1000 genomes]
rs7702869	0.92[EUR][1000 genomes]
rs7702881	0.92[EUR][1000 genomes]
rs790825	0.82[AMR][1000 genomes];0.96[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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114911200-114935600	Weak transcription	Gastric	stomach
2	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
3	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:114919800-114935600	Weak transcription	NH-A	brain
6	chr5:114921600-114935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:114921600-114935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:114925000-114935200	Weak transcription	Left Ventricle	heart
9	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
10	chr5:114930200-114935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:114930200-114937400	Weak transcription	Hela-S3	cervix
12	chr5:114930400-114934800	Weak transcription	Adipose Nuclei	Adipose
13	chr5:114930600-114936400	Weak transcription	HUVEC	blood vessel
14	chr5:114930800-114935200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:114930800-114935200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114930800-114935400	Weak transcription	HSMM	muscle
17	chr5:114930800-114935600	Weak transcription	Fetal Brain Female	brain
18	chr5:114931000-114934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:114931000-114935000	Weak transcription	NHLF	lung
20	chr5:114931000-114935200	Weak transcription	Psoas Muscle	Psoas
21	chr5:114931000-114936800	Weak transcription	Fetal Brain Male	brain
22	chr5:114931200-114935200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:114931600-114935200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:114931600-114937000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:114932600-114935200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:114933000-114937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:114933400-114934200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:114933400-114934600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:114933400-114935200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:114933600-114934200	Enhancers	Osteobl	bone
31	chr5:114933600-114934600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:114933600-114934600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr5:114933600-114934800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:114933600-114935200	Weak transcription	Right Atrium	heart
35	chr5:114933600-114935200	Weak transcription	Right Ventricle	heart
36	chr5:114933800-114937200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:114934000-114934200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:114934000-114934200	Enhancers	Colon Smooth Muscle	Colon
39	chr5:114934000-114934200	Enhancers	Fetal Heart	heart
40	chr5:114934000-114934200	Enhancers	NHDF-Ad	bronchial
41	chr5:114934000-114934800	Active TSS	GM12878-XiMat	blood

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