Variant report

Variant	rs2066696
Chromosome Location	chr13:50884809-50884810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1326125	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1359614	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1409279	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1409280	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2066677	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2066678	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2066681	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2066683	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2066684	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2109236	0.85[ASN][1000 genomes]
rs2532966	0.85[ASN][1000 genomes]
rs2580182	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2580196	0.81[ASN][1000 genomes]
rs2703084	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2703089	0.85[EUR][1000 genomes]
rs2740526	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2740527	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2762053	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2762055	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2762064	0.85[ASN][1000 genomes]
rs2765761	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2812201	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs806323	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs806324	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs806325	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806326	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806330	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs806341	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs806344	0.81[ASN][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50882400-50885400	Enhancers	Primary T cells from cord blood	blood
2	chr13:50882600-50885400	Enhancers	Fetal Lung	lung
3	chr13:50883400-50885200	Enhancers	Fetal Thymus	thymus
4	chr13:50883600-50885200	Enhancers	Fetal Stomach	stomach
5	chr13:50883600-50886200	Enhancers	HepG2	liver
6	chr13:50883800-50885000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:50883800-50885200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:50884000-50885200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:50884000-50885200	Enhancers	Small Intestine	intestine
10	chr13:50884200-50885400	Enhancers	K562	blood
11	chr13:50884400-50885200	Enhancers	Lung	lung
12	chr13:50884600-50885200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:50884600-50885200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:50884600-50886000	Enhancers	Dnd41	blood
15	chr13:50884600-50892400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:50884600-50892600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr13:50884600-50893000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:50884600-50893000	Weak transcription	Thymus	Thymus
19	chr13:50884600-50893200	Weak transcription	Primary hematopoietic stem cells	blood

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