Variant report

Variant	rs10056754
Chromosome Location	chr5:58438118-58438119
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10035950	1.00[ASN][1000 genomes]
rs10036199	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058671	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10058676	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10059053	0.85[MEX][hapmap]
rs10059709	1.00[LWK][hapmap]
rs10062176	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064893	1.00[LWK][hapmap]
rs10069146	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10079544	1.00[ASN][1000 genomes]
rs13328160	1.00[LWK][hapmap]
rs13328226	1.00[LWK][hapmap]
rs17444059	1.00[LWK][hapmap]
rs17528285	1.00[LWK][hapmap]
rs17528473	1.00[LWK][hapmap]
rs17722929	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17723785	1.00[YRI][hapmap]
rs17780213	1.00[LWK][hapmap]
rs1960	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2112959	1.00[LWK][hapmap]
rs28539646	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28544243	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35425879	0.94[EUR][1000 genomes]
rs72764076	0.91[EUR][1000 genomes]
rs72764077	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72764078	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7734053	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734070	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292192	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58424000-58439800	Weak transcription	Small Intestine	intestine
2	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58424200-58446200	Weak transcription	Fetal Intestine Large	intestine
4	chr5:58424200-58446600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:58429800-58447200	Weak transcription	Left Ventricle	heart
7	chr5:58430000-58442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:58431000-58440000	Weak transcription	Fetal Lung	lung
9	chr5:58433000-58451600	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:58435000-58439600	Genic enhancers	A549	lung
11	chr5:58435200-58439000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:58435400-58442400	Weak transcription	Hela-S3	cervix
13	chr5:58436000-58439200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:58437000-58438200	Enhancers	Colon Smooth Muscle	Colon
15	chr5:58437400-58439600	Weak transcription	GM12878-XiMat	blood
16	chr5:58437400-58454000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:58437800-58444800	Weak transcription	Psoas Muscle	Psoas
18	chr5:58438000-58438200	Enhancers	Fetal Heart	heart
19	chr5:58438000-58439200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:58438000-58439600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:58438000-58445200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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