Variant report

Variant	rs17003731
Chromosome Location	chr21:15963833-15963834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15961455..15963973-chr21:15965969..15968617,3	K562	blood:
2	chr21:15963141..15965075-chr21:15973045..15976364,4	K562	blood:
3	chr21:15962990..15965815-chr21:15973045..15978585,5	K562	blood:
4	chr21:15953103..15955709-chr21:15961850..15965268,4	K562	blood:

Variant related genes	Relation type
ENSG00000223662	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17003730	0.91[AFR][1000 genomes]
rs17003785	1.00[YRI][hapmap]
rs17003818	1.00[YRI][hapmap]
rs17003833	1.00[YRI][hapmap]
rs17003885	1.00[YRI][hapmap]
rs17003916	0.82[YRI][hapmap]
rs17003939	1.00[YRI][hapmap]
rs58508672	0.87[AFR][1000 genomes]
rs8132385	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs8134452	1.00[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv470879	chr21:15946828-15964278	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15961400-15965200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr21:15961800-15964400	ZNF genes & repeats	GM12878-XiMat	blood
3	chr21:15962000-15965200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:15962400-15965000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr21:15962400-15966200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr21:15962600-15964600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr21:15962600-15965000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr21:15962600-15965200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:15962800-15965200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr21:15963000-15964200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr21:15963000-15964200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr21:15963000-15964200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:15963000-15965000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr21:15963200-15964000	Weak transcription	Primary T cells from cord blood	blood
15	chr21:15963200-15965400	Weak transcription	Primary B cells from cord blood	blood
16	chr21:15963600-15964400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr21:15963600-15965000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:15963600-15965000	Enhancers	Fetal Lung	lung
19	chr21:15963600-15966000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:15963800-15964200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:15963800-15964200	Enhancers	Colon Smooth Muscle	Colon
22	chr21:15963800-15964200	Enhancers	Hela-S3	cervix
23	chr21:15963800-15964400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:15963800-15964400	Enhancers	K562	blood
25	chr21:15963800-15964600	Enhancers	Adipose Nuclei	Adipose
26	chr21:15963800-15964600	Enhancers	Dnd41	blood
27	chr21:15963800-15965000	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr21:15963800-15965000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:15963800-15965000	Enhancers	Stomach Smooth Muscle	stomach
30	chr21:15963800-15966000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr21:15963800-15966800	Enhancers	Fetal Stomach	stomach

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