Variant report

Variant	rs4417658
Chromosome Location	chr2:210234855-210234856
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	chr2:210232889..210235431-chr2:210287051..210289386,3	MCF-7	breast:
2	chr2:210232168..210234903-chr2:210243196..210246928,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10182475	0.92[CEU][hapmap]
rs10185216	0.92[CEU][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10192555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10203861	1.00[ASN][1000 genomes]
rs10209816	0.93[ASN][1000 genomes]
rs10210266	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs10804175	0.99[ASN][1000 genomes]
rs11692031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12614926	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs13391766	0.84[CEU][hapmap];0.86[YRI][hapmap]
rs1374334	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1446595	1.00[YRI][hapmap]
rs1446596	0.82[CEU][hapmap]
rs17236116	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs2028893	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs2123701	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs6435528	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs6726105	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751612	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs6761283	0.82[CEU][hapmap]
rs975719	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs993784	0.82[CEU][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875764	chr2:210195717-210240990	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1014900	chr2:210205050-210235562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1006636	chr2:210207332-210235562	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210231800-210235000	Enhancers	Hela-S3	cervix
2	chr2:210232000-210235000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr2:210234000-210242400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:210234600-210237200	Weak transcription	HUVEC	blood vessel
5	chr2:210234600-210239200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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