Variant report

Variant	rs12482612
Chromosome Location	chr21:16055568-16055569
allele	G/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	chr21:16053123..16056103-chr21:16127212..16129572,2	K562	blood:
3	chr21:16045852..16052768-chr21:16052792..16061174,10	K562	blood:
4	chr21:16053256..16056620-chr21:16063550..16066551,3	K562	blood:
5	chr21:16053291..16056115-chr21:16133955..16136349,2	K562	blood:
6	chr21:16054663..16056617-chr21:16057352..16059068,2	K562	blood:

Variant related genes	Relation type
ENSG00000226751	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1037807	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13052089	0.80[ASN][1000 genomes]
rs2017388	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2125755	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2822828	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4816351	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs995045	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:24 , 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	chr21:16050000-16057800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16050600-16057800	Weak transcription	Primary T cells from cord blood	blood
4	chr21:16050800-16055600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:16050800-16058000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr21:16050800-16058800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr21:16051000-16055600	Weak transcription	Fetal Thymus	thymus
8	chr21:16051600-16058800	Weak transcription	K562	blood
9	chr21:16051800-16055600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr21:16052200-16056600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr21:16052400-16057200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:16053600-16056800	Enhancers	Dnd41	blood
13	chr21:16053600-16060400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr21:16053600-16061200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:16054200-16056800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr21:16054600-16055800	Enhancers	HUVEC	blood vessel
17	chr21:16055200-16056000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:16055200-16057800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr21:16055400-16055800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr21:16055400-16055800	Flanking Active TSS	GM12878-XiMat	blood
21	chr21:16055400-16056000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr21:16055400-16056000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:16055400-16058600	Enhancers	Primary B cells from cord blood	blood
24	chr21:16055400-16061600	Enhancers	Primary B cells from peripheral blood	blood

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