Variant report

Variant	rs245158
Chromosome Location	chr5:127247600-127247601
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127241157..127248623-chr5:127417759..127421019,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10042555	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10058856	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs111941	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs111942	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs122730	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs122731	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs122734	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12332194	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12332385	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12332386	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12332552	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1421748	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1421749	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1421750	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1421751	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs151853	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151855	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151856	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151858	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151859	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs151882	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs1520247	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173444	0.91[ASN][1000 genomes]
rs187381	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs193495	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2006195	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2108653	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409033	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs245156	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245160	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245167	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs245172	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245173	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245174	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245175	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs245181	0.92[CEU][hapmap]
rs245186	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs245192	0.92[CEU][hapmap];0.83[JPT][hapmap]
rs245195	0.96[CEU][hapmap];0.82[JPT][hapmap]
rs245221	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245237	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2544779	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2544780	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2681512	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2764766	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127244600-127247800	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:127245600-127247600	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr5:127245600-127249200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:127246200-127248200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:127246400-127249800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:127246600-127248200	Weak transcription	Small Intestine	intestine
7	chr5:127247000-127247600	Enhancers	A549	lung
8	chr5:127247000-127252400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:127247200-127248200	Weak transcription	Stomach Mucosa	stomach
10	chr5:127247400-127247600	Enhancers	Fetal Intestine Small	intestine
11	chr5:127247400-127247800	Enhancers	Fetal Intestine Large	intestine

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