Variant report

Variant	rs256984
Chromosome Location	chr5:114906471-114906472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12187973	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs173965	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs173966	0.94[ASN][1000 genomes]
rs187682	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2169771	0.84[ASN][1000 genomes]
rs2546486	0.85[ASN][1000 genomes]
rs2546487	0.83[EUR][1000 genomes]
rs2559990	0.83[ASN][1000 genomes]
rs256943	0.82[ASN][1000 genomes]
rs256944	0.93[ASN][1000 genomes]
rs256945	0.93[ASN][1000 genomes]
rs256956	0.84[EUR][1000 genomes]
rs256959	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs256969	0.90[ASN][1000 genomes]
rs256970	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs256971	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs256972	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs256976	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs256978	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs256980	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs256986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256987	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256988	0.95[ASN][1000 genomes]
rs256991	0.95[ASN][1000 genomes]
rs256993	0.95[ASN][1000 genomes]
rs256994	0.84[ASN][1000 genomes]
rs256996	0.83[ASN][1000 genomes]
rs256997	0.93[ASN][1000 genomes]
rs256998	0.93[ASN][1000 genomes]
rs387718	0.83[ASN][1000 genomes]
rs415577	0.93[ASN][1000 genomes]
rs813761	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114894000-114907200	Weak transcription	Pancreas	Pancrea
2	chr5:114894600-114907000	Weak transcription	Psoas Muscle	Psoas
3	chr5:114894600-114908800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114895800-114907200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:114896200-114908400	Weak transcription	NH-A	brain
6	chr5:114901400-114922400	Weak transcription	Fetal Muscle Leg	muscle
7	chr5:114902400-114911200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:114904800-114911200	Weak transcription	HSMMtube	muscle
9	chr5:114906200-114909000	Enhancers	Brain Anterior Caudate	brain
10	chr5:114906200-114909000	Enhancers	Brain Hippocampus Middle	brain
11	chr5:114906200-114910600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:114906400-114906800	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:114906400-114908800	Enhancers	Brain Angular Gyrus	brain
14	chr5:114906400-114909000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:114906400-114909000	Enhancers	Brain Substantia Nigra	brain
16	chr5:114906400-114910400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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