Variant report

Variant	rs4591727
Chromosome Location	chr5:105430828-105430829
allele	C/T
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:12)

rs_ID	r²[population]
rs10036696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10043055	1.00[AMR][1000 genomes]
rs10054881	1.00[AMR][1000 genomes]
rs10065422	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10072682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076310	1.00[AMR][1000 genomes]
rs10479362	1.00[AMR][1000 genomes]
rs7446410	1.00[AMR][1000 genomes]
rs7700764	1.00[AMR][1000 genomes]
rs7701521	1.00[AMR][1000 genomes]
rs7706900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7729338	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882653	chr5:105272932-105527995	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv882654	chr5:105297529-105453357	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv882655	chr5:105308346-105663646	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv882656	chr5:105326521-105453357	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882657	chr5:105326521-105507543	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv830438	chr5:105336390-105498691	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv882658	chr5:105350426-105453357	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv599285	chr5:105355890-106271223	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv882659	chr5:105358229-105527995	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv882660	chr5:105358229-105685009	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv882662	chr5:105377638-105453357	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv882663	chr5:105377638-105507543	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv882664	chr5:105377638-105527995	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv882665	chr5:105377638-105540934	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	nsv882666	chr5:105377638-105604520	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv882667	chr5:105398475-105507543	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv599290	chr5:105398475-105568943	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	nsv882668	chr5:105409644-105568943	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv2756534	chr5:105427073-105772632	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105426000-105431200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:105430200-105432000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:105430200-105432400	Weak transcription	Osteobl	bone
4	chr5:105430200-105432600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:105430200-105433200	Weak transcription	Fetal Heart	heart
6	chr5:105430400-105432400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:105430600-105432200	Weak transcription	Hela-S3	cervix
8	chr5:105430600-105432800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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