Variant report

Variant	rs6451337
Chromosome Location	chr5:37688094-37688095
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10805627	0.91[ASN][1000 genomes]
rs10941358	0.89[ASN][1000 genomes]
rs10941359	0.95[ASN][1000 genomes]
rs11739400	0.96[ASN][1000 genomes]
rs11740897	0.92[ASN][1000 genomes]
rs11742904	0.89[ASN][1000 genomes]
rs11745953	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11745980	0.96[ASN][1000 genomes]
rs11747548	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11747900	0.95[ASN][1000 genomes]
rs11749563	0.89[ASN][1000 genomes]
rs11750837	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750840	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188864	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12189078	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12332088	0.93[ASN][1000 genomes]
rs12516955	0.93[ASN][1000 genomes]
rs12520944	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521063	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1356433	0.90[ASN][1000 genomes]
rs1400854	0.96[ASN][1000 genomes]
rs1517786	0.94[ASN][1000 genomes]
rs1589119	0.91[ASN][1000 genomes]
rs1996427	0.95[ASN][1000 genomes]
rs2176479	0.91[ASN][1000 genomes]
rs2366673	0.86[EUR][1000 genomes]
rs4242251	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4257799	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4343860	0.99[ASN][1000 genomes]
rs4371784	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451075	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4482927	0.99[ASN][1000 genomes]
rs4516881	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4516882	1.00[ASN][1000 genomes]
rs4541680	0.87[ASN][1000 genomes]
rs4582305	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4594879	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4608942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618454	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869541	0.96[ASN][1000 genomes]
rs4869543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55708822	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55732996	0.91[ASN][1000 genomes]
rs55742744	0.91[ASN][1000 genomes]
rs55849485	0.92[ASN][1000 genomes]
rs56007806	0.94[ASN][1000 genomes]
rs56051431	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56051756	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56100322	0.91[ASN][1000 genomes]
rs56412589	0.92[ASN][1000 genomes]
rs56832651	0.95[ASN][1000 genomes]
rs59378089	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59409868	0.95[ASN][1000 genomes]
rs59829323	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60589722	0.91[ASN][1000 genomes]
rs61492379	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62358883	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62360907	0.92[ASN][1000 genomes]
rs62360910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451329	0.90[ASN][1000 genomes]
rs6451330	0.89[ASN][1000 genomes]
rs6451331	0.89[ASN][1000 genomes]
rs6451333	0.94[ASN][1000 genomes]
rs6451339	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6863936	0.93[ASN][1000 genomes]
rs6864924	0.85[ASN][1000 genomes]
rs6868428	0.94[ASN][1000 genomes]
rs6884551	0.98[ASN][1000 genomes]
rs6884569	0.98[ASN][1000 genomes]
rs6885057	0.93[ASN][1000 genomes]
rs6885329	0.92[ASN][1000 genomes]
rs6887215	0.94[ASN][1000 genomes]
rs6887613	0.94[ASN][1000 genomes]
rs72743184	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7702644	0.91[ASN][1000 genomes]
rs7703775	0.92[ASN][1000 genomes]
rs7725465	0.93[EUR][1000 genomes];0.96[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37680200-37690400	Weak transcription	Aorta	Aorta
2	chr5:37681000-37689000	Weak transcription	Right Ventricle	heart
3	chr5:37682200-37698000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:37682800-37696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:37683400-37688800	Weak transcription	Fetal Intestine Small	intestine
6	chr5:37683600-37694200	Weak transcription	Dnd41	blood
7	chr5:37683800-37696600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:37684400-37700000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:37684400-37705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:37685000-37695800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:37685200-37688600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:37685200-37696600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:37685200-37743200	Weak transcription	Gastric	stomach
14	chr5:37685400-37688800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:37685400-37688800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:37685400-37689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:37685400-37717600	Weak transcription	Pancreas	Pancrea
18	chr5:37685600-37711200	Weak transcription	Fetal Stomach	stomach
19	chr5:37685600-37727000	Weak transcription	Lung	lung
20	chr5:37686400-37691200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:37687000-37688800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:37687200-37720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:37687600-37688800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:37687600-37695000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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