Variant report

Variant	rs17274324
Chromosome Location	chr21:15919971-15919972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr21:15919646-15919986	K562	blood:	n/a	n/a
2	RELA	chr21:15919553-15920783	GM12891	blood:	n/a	n/a
3	TBP	chr21:15919775-15919989	GM12878	blood:	n/a	n/a
4	EP300	chr21:15919864-15920031	K562	blood:	n/a	n/a
5	MXI1	chr21:15919813-15919989	GM12878	blood:	n/a	n/a
6	BHLHE40	chr21:15919813-15920020	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15919781..15923280-chr21:15954504..15956620,3	K562	blood:
2	chr21:15919672..15922192-chr21:15926866..15928968,2	K562	blood:
3	chr21:15919906..15922793-chr21:15932302..15934213,2	K562	blood:
4	chr21:15919365..15921468-chr21:16048127..16050377,2	K562	blood:
5	chr21:15918667..15923010-chr21:15942455..15946099,5	K562	blood:
6	chr21:15916155..15921451-chr21:15952417..15958327,11	K562	blood:
7	chr21:15915978..15918625-chr21:15919465..15922478,3	K562	blood:

No data

Variant related genes	Relation type
SAMSN1	TF binding region
ENSG00000155307	Chromatin interaction
ENSG00000223662	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17003491	1.00[EUR][1000 genomes]
rs17003493	1.00[EUR][1000 genomes]
rs17003494	1.00[EUR][1000 genomes]
rs17003525	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv1058533	chr21:15896056-15948474	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv544377	chr21:15896056-15948474	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	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
9	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
10	esv2763685	chr21:15904945-15933282	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv587048	chr21:15908642-15932610	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv522627	chr21:15908642-15936503	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15918800-15920000	Enhancers	Dnd41	blood
2	chr21:15918800-15920200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr21:15918800-15920400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr21:15918800-15921000	Enhancers	Primary B cells from cord blood	blood
5	chr21:15918800-15922400	Enhancers	Primary hematopoietic stem cells	blood
6	chr21:15918800-15922400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr21:15918800-15922400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr21:15918800-15922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:15918800-15923600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr21:15918800-15923600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr21:15918800-15923800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr21:15918800-15927000	Weak transcription	Fetal Thymus	thymus
13	chr21:15919000-15920200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr21:15919000-15921000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr21:15919000-15923600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr21:15919000-15923800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:15919200-15921600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr21:15919200-15922200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr21:15919400-15921200	Flanking Active TSS	GM12878-XiMat	blood
20	chr21:15919400-15921600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr21:15919400-15922400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr21:15919600-15920000	Weak transcription	HUVEC	blood vessel
23	chr21:15919600-15920400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr21:15919600-15921000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:15919600-15923600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr21:15919800-15920000	Enhancers	Primary T cells from cord blood	blood
27	chr21:15919800-15920600	Active TSS	K562	blood
28	chr21:15919800-15920800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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