Variant report

Variant	rs350448
Chromosome Location	chr5:51987523-51987524
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10059225	1.00[ASN][1000 genomes]
rs10072067	1.00[ASN][1000 genomes]
rs10077122	1.00[ASN][1000 genomes]
rs10512979	1.00[ASN][1000 genomes]
rs11949933	1.00[ASN][1000 genomes]
rs11952014	1.00[ASN][1000 genomes]
rs13155491	1.00[ASN][1000 genomes]
rs13158962	1.00[ASN][1000 genomes]
rs13356456	1.00[ASN][1000 genomes]
rs13358437	1.00[ASN][1000 genomes]
rs1450948	1.00[ASN][1000 genomes]
rs1585698	1.00[ASN][1000 genomes]
rs2406194	1.00[ASN][1000 genomes]
rs2406195	1.00[ASN][1000 genomes]
rs350415	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350446	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350451	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350453	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs350454	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350455	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350456	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350457	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350458	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs350459	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350460	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs350462	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351909	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422331	1.00[ASN][1000 genomes]
rs35949279	1.00[ASN][1000 genomes]
rs36040466	1.00[ASN][1000 genomes]
rs588159	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588665	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601743	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606704	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619148	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62358666	1.00[ASN][1000 genomes]
rs62358702	1.00[ASN][1000 genomes]
rs634323	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636028	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638304	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638715	0.88[EUR][1000 genomes]
rs646638	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647974	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs648894	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649787	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650009	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650310	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652181	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs654854	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655137	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662516	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666341	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs667698	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669512	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676843	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs677349	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678501	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682160	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682625	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71633440	1.00[ASN][1000 genomes]
rs889289	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51985400-51989200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:51985600-51988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:51985600-51988400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:51985600-51988400	Enhancers	Hela-S3	cervix
5	chr5:51985600-51990600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:51985600-51993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:51985800-51989000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:51985800-51989600	Enhancers	Fetal Lung	lung
9	chr5:51986000-51988600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:51986200-51988000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:51986200-51988200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:51986200-51988400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:51986200-51988600	Enhancers	NHDF-Ad	bronchial
14	chr5:51986200-51988800	Enhancers	NH-A	brain
15	chr5:51986200-51989000	Enhancers	Fetal Stomach	stomach
16	chr5:51986200-51989000	Enhancers	HSMM	muscle
17	chr5:51986200-51989200	Enhancers	HSMMtube	muscle
18	chr5:51986200-51989600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr5:51986400-51988200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:51986400-51988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:51986400-51988800	Weak transcription	Spleen	Spleen
22	chr5:51986600-51990000	Weak transcription	Adipose Nuclei	Adipose
23	chr5:51986800-51987600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:51986800-51988400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:51986800-51988400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:51986800-51989200	Enhancers	NHLF	lung
27	chr5:51987200-51987600	Enhancers	Small Intestine	intestine
28	chr5:51987400-51987600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:51987400-51987600	Flanking Active TSS	Fetal Kidney	kidney
30	chr5:51987400-51987600	Enhancers	Stomach Smooth Muscle	stomach
31	chr5:51987400-51987800	Enhancers	Fetal Muscle Leg	muscle
32	chr5:51987400-51988200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr5:51987400-51988400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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