Variant report

Variant	rs806310
Chromosome Location	chr13:50883704-50883705
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr13:50883463-50883770	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
DLEU1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs706604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73495882	1.00[EUR][1000 genomes]
rs73495892	1.00[EUR][1000 genomes]
rs73495894	1.00[EUR][1000 genomes]
rs73498021	1.00[EUR][1000 genomes]
rs73498033	1.00[EUR][1000 genomes]
rs73498084	1.00[EUR][1000 genomes]
rs73500218	1.00[EUR][1000 genomes]
rs806304	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs806357	0.83[AMR][1000 genomes]
rs806358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs812607	1.00[EUR][1000 genomes]
rs9596241	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv561632	chr13:50874346-50912578	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50876400-50883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:50882400-50883800	Enhancers	Dnd41	blood
3	chr13:50882400-50885400	Enhancers	Primary T cells from cord blood	blood
4	chr13:50882600-50884200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:50882600-50885400	Enhancers	Fetal Lung	lung
6	chr13:50883200-50884600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:50883400-50884200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:50883400-50884600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:50883400-50884600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr13:50883400-50884600	Enhancers	Thymus	Thymus
11	chr13:50883400-50885200	Enhancers	Fetal Thymus	thymus
12	chr13:50883600-50883800	Enhancers	Right Atrium	heart
13	chr13:50883600-50883800	Enhancers	Stomach Mucosa	stomach
14	chr13:50883600-50884000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:50883600-50884000	Enhancers	Stomach Smooth Muscle	stomach
16	chr13:50883600-50884200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr13:50883600-50884200	Enhancers	Fetal Brain Male	brain
18	chr13:50883600-50884400	Enhancers	Adipose Nuclei	Adipose
19	chr13:50883600-50884600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:50883600-50884600	Enhancers	Primary hematopoietic stem cells	blood
21	chr13:50883600-50884600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr13:50883600-50884600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr13:50883600-50884600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr13:50883600-50884600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr13:50883600-50884600	Enhancers	Fetal Muscle Leg	muscle
26	chr13:50883600-50884800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr13:50883600-50884800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:50883600-50885200	Enhancers	Fetal Stomach	stomach
29	chr13:50883600-50886200	Enhancers	HepG2	liver

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