Variant report

Variant	rs17049308
Chromosome Location	chr2:58247264-58247265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58243274..58245439-chr2:58246837..58248682,2	K562	blood:
2	chr2:58247203..58248924-chr2:58262338..58265214,2	MCF-7	breast:
3	chr2:58247168..58251041-chr2:58272762..58276217,5	K562	blood:

Variant related genes	Relation type
ENSG00000028116	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10171955	0.81[ASN][1000 genomes]
rs10188390	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10210198	0.94[ASN][1000 genomes]
rs10496084	0.88[YRI][hapmap]
rs10496085	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs11898024	0.81[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12470851	0.81[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12471043	0.81[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12478718	0.81[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1371212	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1401101	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1518403	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17049262	0.88[YRI][hapmap]
rs17049295	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17049299	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17049312	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17049314	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17049316	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17049321	0.89[ASN][1000 genomes]
rs34191187	0.94[ASN][1000 genomes]
rs35876471	0.98[ASN][1000 genomes]
rs3771203	0.89[ASN][1000 genomes]
rs55723561	0.90[ASN][1000 genomes]
rs55856965	0.97[ASN][1000 genomes]
rs61026067	0.89[AFR][1000 genomes]
rs61548822	0.97[ASN][1000 genomes]
rs6545679	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6732965	0.97[ASN][1000 genomes]
rs67484511	0.97[ASN][1000 genomes]
rs6755324	1.00[JPT][hapmap]
rs72808498	0.85[ASN][1000 genomes]
rs72808501	0.85[ASN][1000 genomes]
rs72810305	0.98[ASN][1000 genomes]
rs72810306	0.98[ASN][1000 genomes]
rs72810307	0.97[ASN][1000 genomes]
rs72810308	0.94[ASN][1000 genomes]
rs72810316	0.97[ASN][1000 genomes]
rs72810317	0.95[ASN][1000 genomes]
rs72810318	0.90[ASN][1000 genomes]
rs72810320	0.86[ASN][1000 genomes]
rs72810325	0.87[ASN][1000 genomes]
rs728574	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs968850	0.84[ASN][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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874200	chr2:58163178-58262016	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58244800-58250600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:58245800-58247400	Enhancers	GM12878-XiMat	blood

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