Variant report

Variant	rs1421799
Chromosome Location	chr5:97437976-97437977
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11737989	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11738282	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740673	1.00[ASN][1000 genomes]
rs11740674	1.00[ASN][1000 genomes]
rs11741343	1.00[ASN][1000 genomes]
rs11741367	1.00[ASN][1000 genomes]
rs11743429	1.00[ASN][1000 genomes]
rs11747874	1.00[ASN][1000 genomes]
rs11749135	1.00[ASN][1000 genomes]
rs11749933	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750310	1.00[ASN][1000 genomes]
rs11750440	1.00[ASN][1000 genomes]
rs7707133	1.00[ASN][1000 genomes]
rs7733677	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1019049	chr5:97373215-97442582	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv599076	chr5:97423476-97478555	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv32866	chr5:97424721-97463865	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	lncRNA	1 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	chr5:97432200-97440800	Weak transcription	HSMM	muscle
2	chr5:97432400-97443400	Weak transcription	NH-A	brain
3	chr5:97432800-97439600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:97432800-97440600	Weak transcription	NHLF	lung
5	chr5:97432800-97441400	Weak transcription	Osteobl	bone
6	chr5:97436200-97438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:97436200-97442600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:97436200-97443400	Weak transcription	HMEC	breast
9	chr5:97436400-97438400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:97436400-97440800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:97437000-97439800	Weak transcription	NHDF-Ad	bronchial
12	chr5:97437400-97438400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:97437400-97442000	Weak transcription	HUVEC	blood vessel
14	chr5:97437600-97438000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:97437600-97440000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:97437800-97441000	Weak transcription	HSMMtube	muscle

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

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