Variant report

Variant	rs257216
Chromosome Location	chr5:97399183-97399184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2431181	0.81[ASN][1000 genomes]
rs2432024	0.87[ASN][1000 genomes]
rs2432026	0.92[ASN][1000 genomes]
rs257225	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs416531	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs416836	0.83[ASN][1000 genomes]
rs434263	0.92[ASN][1000 genomes]
rs691316	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016231	chr5:97206242-97420435	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1021856	chr5:97258323-97414178	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv599062	chr5:97258619-97430527	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2830155	chr5:97278902-97425123	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv882404	chr5:97281641-97638743	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1031989	chr5:97333291-97524353	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1034472	chr5:97357264-97523965	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1019049	chr5:97373215-97442582	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1821238	chr5:97383980-97402715	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv1829983	chr5:97394232-97402664	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv2758004	chr5:97395508-97550089	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	esv2759357	chr5:97395508-97616089	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv599063	chr5:97399183-97402664	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97398600-97401800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:97399000-97399200	Enhancers	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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