Variant report

Variant	rs5744090
Chromosome Location	chr1:223318364-223318365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2609374	1.00[AMR][1000 genomes]
rs2609375	1.00[AMR][1000 genomes]
rs2609376	1.00[AMR][1000 genomes]
rs5744099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs864310	1.00[AMR][1000 genomes]
rs988781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223315200-223318800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr1:223316800-223318600	Enhancers	Lung	lung
3	chr1:223317000-223318400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:223317000-223318400	Enhancers	Fetal Intestine Large	intestine
5	chr1:223317000-223318400	Enhancers	Fetal Intestine Small	intestine
6	chr1:223317000-223318600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:223317000-223318600	Enhancers	Fetal Thymus	thymus
8	chr1:223317200-223318400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:223317200-223318600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr1:223317200-223318800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:223317400-223318400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:223317400-223318600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:223317600-223318400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:223317600-223318600	Enhancers	K562	blood
15	chr1:223317600-223319000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:223317600-223326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:223317800-223318600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:223317800-223321400	Weak transcription	Gastric	stomach
19	chr1:223318000-223318400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr1:223318000-223318400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:223318000-223318600	Enhancers	Duodenum Mucosa	Duodenum
22	chr1:223318000-223318800	Enhancers	Primary T cells from cord blood	blood
23	chr1:223318000-223321400	Weak transcription	Thymus	Thymus

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