Variant report

Variant	rs55853686
Chromosome Location	chr12:68383624-68383625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2904537	0.86[EUR][1000 genomes]
rs55637283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55639147	0.88[EUR][1000 genomes]
rs55640059	0.90[EUR][1000 genomes]
rs55763957	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs55798936	0.88[EUR][1000 genomes]
rs55976438	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56016176	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56050933	0.85[EUR][1000 genomes]
rs56128793	0.85[EUR][1000 genomes]
rs56137909	0.88[EUR][1000 genomes]
rs56188054	0.81[EUR][1000 genomes]
rs56268423	0.88[EUR][1000 genomes]
rs57309000	0.86[EUR][1000 genomes]
rs59161212	0.86[EUR][1000 genomes]
rs60801514	0.86[EUR][1000 genomes]
rs61627136	0.85[EUR][1000 genomes]
rs74099901	0.86[EUR][1000 genomes]
rs7959936	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv975510	chr12:68382193-68385232	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv975509	chr12:68382193-68405026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68381400-68383800	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:68382200-68384400	Flanking Active TSS	GM12878-XiMat	blood
3	chr12:68382400-68383800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:68382400-68383800	Enhancers	Thymus	Thymus
5	chr12:68382600-68383800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:68382800-68384200	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr12:68382800-68384400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:68382800-68384400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr12:68383000-68383800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr12:68383000-68384000	Active TSS	Duodenum Mucosa	Duodenum
11	chr12:68383000-68384200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:68383000-68385400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:68383200-68383800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:68383200-68383800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:68383200-68383800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr12:68383200-68383800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:68383200-68384000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:68383200-68384000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr12:68383200-68384000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr12:68383400-68383800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr12:68383400-68383800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr12:68383400-68383800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr12:68383400-68384000	Flanking Active TSS	Fetal Thymus	thymus
24	chr12:68383600-68384000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:68383600-68384800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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