Variant report

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:

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

rs_ID	r²[population]
rs11701328	0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs1350630	0.90[CHB][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs1977014	0.83[EUR][1000 genomes]
rs1977015	0.90[CHB][hapmap];0.85[MEX][hapmap];0.81[EUR][1000 genomes]
rs2125751	0.90[CHB][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2822822	0.90[CHB][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs388522	0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs390482	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs398972	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs402425	0.85[ASN][1000 genomes]
rs421894	0.90[CHB][hapmap]
rs440600	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs450193	0.90[CHB][hapmap]
rs455547	0.90[CHB][hapmap]
rs455821	0.90[CHB][hapmap];0.85[MEX][hapmap]
rs458104	0.90[CHB][hapmap];0.85[MEX][hapmap]
rs460280	0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap]
rs466008	0.90[CHB][hapmap]
rs466909	0.90[CHB][hapmap]
rs6516928	0.90[CHB][hapmap]
rs7275267	0.81[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs7277131	0.90[CHB][hapmap];0.84[EUR][1000 genomes]
rs7280842	0.90[CHB][hapmap];0.85[MEX][hapmap];0.83[EUR][1000 genomes]
rs989877	0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs989878	0.84[EUR][1000 genomes]
rs9977944	0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs9980813	0.84[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2045586	C8orf85	trans	cerebellum	SCAN

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	chr21:16044800-16046200	Enhancers	Primary T cells from cord blood	blood
3	chr21:16045000-16048000	Enhancers	Dnd41	blood
4	chr21:16045000-16048000	Enhancers	K562	blood
5	chr21:16045200-16047800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr21:16045400-16046200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr21:16045600-16046200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:16045600-16047400	Weak transcription	Primary B cells from cord blood	blood
9	chr21:16046000-16046200	Enhancers	Primary T helper cells PMA-I stimulated	--

Quick Search: