Variant report

Variant	rs116136
Chromosome Location	chr21:15865123-15865124
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15860428..15863237-chr21:15863342..15865579,2	K562	blood:
2	chr21:15863117..15865240-chr21:15875551..15877419,2	K562	blood:
3	chr21:15863459..15867536-chr21:15871353..15874494,5	K562	blood:

Variant related genes	Relation type
ENSG00000155307	Chromatin interaction

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

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

rs_ID	r²[population]
rs1735230	0.81[CEU][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs1735484	0.84[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs2822707	0.81[EUR][1000 genomes]
rs368657	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs376635	0.81[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs405792	0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs427307	0.89[TSI][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063703	chr21:15777995-15882121	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv544375	chr21:15777995-15882121	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv523557	chr21:15862491-15870171	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	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
8	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15847800-15874800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr21:15853200-15885800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
4	chr21:15854600-15867600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr21:15854600-15868600	Weak transcription	Fetal Thymus	thymus
6	chr21:15854800-15867600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr21:15854800-15875600	Weak transcription	Thymus	Thymus
8	chr21:15855200-15867000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr21:15855400-15867200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr21:15855400-15869000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:15855400-15871000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr21:15855600-15865200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:15856200-15875400	Weak transcription	Spleen	Spleen
14	chr21:15857000-15865400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr21:15857200-15882600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:15859400-15865200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:15860400-15865200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr21:15860800-15867000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:15861400-15874800	Weak transcription	Small Intestine	intestine
20	chr21:15861600-15866200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr21:15861600-15866200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:15861600-15881000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr21:15862400-15865800	Strong transcription	GM12878-XiMat	blood
24	chr21:15862600-15866200	Genic enhancers	K562	blood
25	chr21:15862600-15870600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr21:15862600-15889400	Strong transcription	Dnd41	blood
27	chr21:15863200-15870600	Strong transcription	Primary T cells from cord blood	blood
28	chr21:15863800-15865200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:15864000-15865200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr21:15864000-15868800	Weak transcription	Primary B cells from cord blood	blood
31	chr21:15864200-15865400	Weak transcription	Gastric	stomach
32	chr21:15864800-15865400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
33	chr21:15864800-15866800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr21:15864800-15878400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr21:15864800-15881600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr21:15865000-15865200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:15865000-15866400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:15865000-15878600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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