Variant report

Variant	rs388522
Chromosome Location	chr21:16046214-16046215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16045852..16052768-chr21:16052792..16061174,10	K562	blood:
2	chr21:16027302..16029189-chr21:16043696..16046360,3	K562	blood:
3	chr21:16044694..16046970-chr21:16047016..16050128,3	K562	blood:
4	chr21:15988650..15990823-chr21:16044821..16046582,2	K562	blood:
5	chr21:16044097..16046561-chr21:16049201..16052244,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11701328	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs1350630	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs1977015	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs2045586	0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2125751	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs2822822	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs370416	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs390482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs395625	0.85[YRI][hapmap]
rs398972	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs402425	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs421894	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs440600	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs450193	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs455547	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs455821	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs458104	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs460280	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs460643	0.80[JPT][hapmap];0.83[YRI][hapmap]
rs466008	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs466909	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs6516928	0.81[CHB][hapmap]
rs7275267	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs7277131	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs7280842	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs989877	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs9977944	0.81[CHB][hapmap]

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	nsv834045	chr21:15900678-16112850	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv834046	chr21:15903792-16077369	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16044400-16050000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr21:16045000-16048000	Enhancers	Dnd41	blood
3	chr21:16045000-16048000	Enhancers	K562	blood
4	chr21:16045200-16047800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr21:16045600-16047400	Weak transcription	Primary B cells from cord blood	blood
6	chr21:16046200-16047000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr21:16046200-16047400	Weak transcription	Primary T cells from cord blood	blood
8	chr21:16046200-16047600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr21:16046200-16050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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