Variant report

Variant	rs2125755
Chromosome Location	chr21:16053025-16053026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16052972..16056620-chr21:16062955..16066551,4	K562	blood:
2	chr21:16045852..16052768-chr21:16052792..16061174,10	K562	blood:
3	chr21:16052375..16054861-chr21:16062775..16064860,2	MCF-7	breast:
4	chr21:16051268..16053667-chr21:16073201..16074976,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1037807	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12162546	0.82[JPT][hapmap]
rs12482612	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13052089	0.80[ASN][1000 genomes]
rs1380450	0.82[JPT][hapmap]
rs2017388	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2822809	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2822828	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs439328	0.87[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap]
rs459879	0.83[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap]
rs461178	0.81[JPT][hapmap]
rs461853	0.82[JPT][hapmap]
rs462074	0.83[GIH][hapmap]
rs465122	0.82[JPT][hapmap]
rs4816351	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7277303	0.87[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap]
rs995045	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16049000-16058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr21:16049600-16054600	Weak transcription	HUVEC	blood vessel
3	chr21:16050000-16057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:16050200-16055400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr21:16050600-16055200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:16050600-16057800	Weak transcription	Primary T cells from cord blood	blood
7	chr21:16050800-16053600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr21:16050800-16054200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr21:16050800-16055400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr21:16050800-16055600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:16050800-16058000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:16050800-16058800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr21:16051000-16053600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:16051000-16053600	Weak transcription	Dnd41	blood
15	chr21:16051000-16055600	Weak transcription	Fetal Thymus	thymus
16	chr21:16051600-16058800	Weak transcription	K562	blood
17	chr21:16051800-16055600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr21:16052000-16053200	ZNF genes & repeats	GM12878-XiMat	blood
19	chr21:16052200-16053200	Enhancers	Primary B cells from peripheral blood	blood
20	chr21:16052200-16056600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr21:16052400-16053200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:16052400-16057200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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