Variant report

Variant	rs4242238
Chromosome Location	chr5:97499849-97499850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10042528	1.00[AMR][1000 genomes]
rs10042531	1.00[AMR][1000 genomes]
rs10043294	1.00[AMR][1000 genomes]
rs10074785	1.00[AMR][1000 genomes]
rs4326169	1.00[AMR][1000 genomes]
rs4354070	1.00[AMR][1000 genomes]
rs4412130	1.00[AMR][1000 genomes]
rs4490612	1.00[AMR][1000 genomes]
rs4869397	1.00[AMR][1000 genomes]
rs6557033	1.00[AMR][1000 genomes]
rs6557034	1.00[AMR][1000 genomes]
rs6557035	1.00[AMR][1000 genomes]
rs6557046	1.00[AMR][1000 genomes]
rs6891842	1.00[AMR][1000 genomes]
rs7735390	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	esv2753887	chr5:97439630-97532740	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2757123	chr5:97442526-97616089	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1033719	chr5:97446209-97557327	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv516094	chr5:97447595-97512070	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv818359	chr5:97447595-97537837	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv818360	chr5:97447595-97557817	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv3692867	chr5:97477227-97537837	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv882405	chr5:97477227-97554193	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1029815	chr5:97485129-97563112	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97498600-97504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97499600-97500000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:97499600-97500000	Enhancers	Brain Cingulate Gyrus	brain
4	chr5:97499600-97500000	Enhancers	Brain Hippocampus Middle	brain
5	chr5:97499600-97500000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr5:97499600-97500000	Enhancers	Brain Substantia Nigra	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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