Variant report

Variant	rs2117168
Chromosome Location	chr2:47155219-47155220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47151428..47156852-chr2:47167376..47169782,7	MCF-7	breast:
2	chr2:47153593..47155659-chr2:47167396..47169944,3	MCF-7	breast:
3	chr2:47154064..47155957-chr2:47551668..47554389,2	K562	blood:

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000180398	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1051317	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12621059	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62140549	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6419615	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6544941	0.85[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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47155800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:47144200-47157200	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
4	chr2:47144600-47164600	Weak transcription	Spleen	Spleen
5	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
6	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:47150600-47156600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:47150800-47157200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
12	chr2:47153400-47164400	Weak transcription	Thymus	Thymus
13	chr2:47153600-47160200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:47153800-47155600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:47153800-47166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:47154000-47166400	Weak transcription	Hela-S3	cervix
17	chr2:47154400-47163600	Weak transcription	Osteobl	bone
18	chr2:47154400-47166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:47154600-47159400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr2:47155200-47155400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:47155200-47156400	Enhancers	Dnd41	blood
22	chr2:47155200-47164400	Weak transcription	Fetal Thymus	thymus

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