Variant report

Variant	rs4618454
Chromosome Location	chr5:37689767-37689768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10805627	0.90[ASN][1000 genomes]
rs10941358	0.88[ASN][1000 genomes]
rs10941359	0.94[ASN][1000 genomes]
rs11739400	0.95[ASN][1000 genomes]
rs11740897	0.91[ASN][1000 genomes]
rs11742904	0.87[ASN][1000 genomes]
rs11745953	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11745980	0.95[ASN][1000 genomes]
rs11747548	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11747900	0.94[ASN][1000 genomes]
rs11749563	0.87[ASN][1000 genomes]
rs11750837	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11750840	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12188864	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12189078	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12332088	0.91[ASN][1000 genomes]
rs12516955	0.91[ASN][1000 genomes]
rs12520944	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12521063	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1356433	0.89[ASN][1000 genomes]
rs1400854	0.95[ASN][1000 genomes]
rs1517786	0.92[ASN][1000 genomes]
rs1589119	0.90[ASN][1000 genomes]
rs1996427	0.94[ASN][1000 genomes]
rs2176479	0.90[ASN][1000 genomes]
rs2366673	0.85[EUR][1000 genomes]
rs4242251	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4257799	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4343860	0.97[ASN][1000 genomes]
rs4371784	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4451075	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4482927	0.97[ASN][1000 genomes]
rs4516881	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4516882	0.99[ASN][1000 genomes]
rs4541680	0.86[ASN][1000 genomes]
rs4582305	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4594879	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4608942	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869541	0.95[ASN][1000 genomes]
rs4869543	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55708822	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55732996	0.89[ASN][1000 genomes]
rs55742744	0.89[ASN][1000 genomes]
rs55849485	0.94[ASN][1000 genomes]
rs55971716	0.80[ASN][1000 genomes]
rs56007806	0.92[ASN][1000 genomes]
rs56051431	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56051756	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56100322	0.89[ASN][1000 genomes]
rs56412589	0.91[ASN][1000 genomes]
rs56832651	0.94[ASN][1000 genomes]
rs59378089	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59409868	0.94[ASN][1000 genomes]
rs59829323	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60589722	0.89[ASN][1000 genomes]
rs61492379	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62358883	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62360907	0.91[ASN][1000 genomes]
rs62360910	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451329	0.89[ASN][1000 genomes]
rs6451330	0.88[ASN][1000 genomes]
rs6451331	0.88[ASN][1000 genomes]
rs6451333	0.92[ASN][1000 genomes]
rs6451337	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451339	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6863936	0.91[ASN][1000 genomes]
rs6864924	0.86[ASN][1000 genomes]
rs6868428	0.92[ASN][1000 genomes]
rs6884551	0.96[ASN][1000 genomes]
rs6884569	0.96[ASN][1000 genomes]
rs6885057	0.91[ASN][1000 genomes]
rs6885329	0.91[ASN][1000 genomes]
rs6887215	0.92[ASN][1000 genomes]
rs6887613	0.92[ASN][1000 genomes]
rs72743184	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7702644	0.90[ASN][1000 genomes]
rs7703775	0.90[ASN][1000 genomes]
rs7725465	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37680200-37690400	Weak transcription	Aorta	Aorta
2	chr5:37682200-37698000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:37682800-37696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:37683600-37694200	Weak transcription	Dnd41	blood
5	chr5:37683800-37696600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:37684400-37700000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:37684400-37705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:37685000-37695800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:37685200-37696600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:37685200-37743200	Weak transcription	Gastric	stomach
11	chr5:37685400-37717600	Weak transcription	Pancreas	Pancrea
12	chr5:37685600-37711200	Weak transcription	Fetal Stomach	stomach
13	chr5:37685600-37727000	Weak transcription	Lung	lung
14	chr5:37686400-37691200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:37687200-37720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:37687600-37695000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:37688400-37721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:37688400-37721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr5:37688400-37723600	Weak transcription	Placenta	Placenta
20	chr5:37689200-37691600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:37689600-37696000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:37689600-37696600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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