Variant report

Variant	rs3888707
Chromosome Location	chr21:16049864-16049865
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	chr21:15919365..15921468-chr21:16048127..16050377,2	K562	blood:
3	chr21:16044097..16046561-chr21:16049201..16052244,3	K562	blood:
4	chr21:16044694..16046970-chr21:16047016..16050128,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17003466	1.00[AMR][1000 genomes]
rs17003773	1.00[EUR][1000 genomes]
rs17004302	1.00[EUR][1000 genomes]
rs2064029	1.00[AMR][1000 genomes]
rs28435493	1.00[EUR][1000 genomes]
rs28454941	1.00[AMR][1000 genomes]
rs28677993	1.00[AMR][1000 genomes]
rs3888706	1.00[AMR][1000 genomes]
rs3895080	1.00[AMR][1000 genomes]
rs7278233	1.00[EUR][1000 genomes]
rs7283445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs748911	1.00[AMR][1000 genomes]
rs760300	1.00[AMR][1000 genomes]
rs8131507	1.00[CEU][hapmap]
rs9808788	1.00[AMR][1000 genomes]
rs9981300	1.00[EUR][1000 genomes]
rs9981335	1.00[AMR][1000 genomes]
rs9982404	1.00[AMR][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:33 , 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	chr21:16046200-16050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:16047000-16050200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr21:16047400-16050800	Enhancers	Primary B cells from peripheral blood	blood
5	chr21:16047600-16050200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr21:16047600-16050600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:16047800-16050800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr21:16048000-16050400	Flanking Active TSS	Dnd41	blood
9	chr21:16048200-16050000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:16048600-16050000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:16048600-16050800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr21:16048800-16050000	Enhancers	Primary hematopoietic stem cells	blood
13	chr21:16049000-16050200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr21:16049000-16050400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:16049000-16050600	Enhancers	Primary B cells from cord blood	blood
16	chr21:16049000-16050800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr21:16049000-16050800	Weak transcription	Fetal Thymus	thymus
18	chr21:16049000-16052200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr21:16049000-16058400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:16049200-16050000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr21:16049200-16050600	Enhancers	Primary T cells from cord blood	blood
22	chr21:16049200-16050800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:16049200-16050800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr21:16049400-16050400	Enhancers	Duodenum Mucosa	Duodenum
25	chr21:16049400-16050800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr21:16049400-16050800	Enhancers	GM12878-XiMat	blood
27	chr21:16049400-16051000	Flanking Active TSS	K562	blood
28	chr21:16049400-16051200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr21:16049600-16050000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr21:16049600-16050000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr21:16049600-16054600	Weak transcription	HUVEC	blood vessel
32	chr21:16049800-16050200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr21:16049800-16050600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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