Variant report

Variant	rs12650281
Chromosome Location	chr4:96055158-96055159
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10004711	0.84[EUR][1000 genomes]
rs10155123	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10155222	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10212627	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10516958	0.98[EUR][1000 genomes]
rs11097456	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11097457	0.80[EUR][1000 genomes]
rs11097458	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12506402	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12640643	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12644188	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13139538	0.89[EUR][1000 genomes]
rs1365691	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1369085	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1434535	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1434536	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1434538	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1434539	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1434544	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1540403	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17348139	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1813074	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1836261	0.80[EUR][1000 genomes]
rs1863654	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1865379	0.80[EUR][1000 genomes]
rs1966548	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1970801	0.80[EUR][1000 genomes]
rs2114533	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2162450	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2241743	0.84[EUR][1000 genomes]
rs2241744	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2289044	0.80[EUR][1000 genomes]
rs2865397	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3755876	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775042	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3796437	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3796439	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3796443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821964	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3857227	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3857228	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4583767	0.87[ASN][1000 genomes]
rs58399580	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60472405	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6815969	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7664562	0.80[EUR][1000 genomes]
rs7694131	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965823	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs975608	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs989383	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr4:96016000-96060600	Weak transcription	Thymus	Thymus
2	chr4:96024200-96060600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:96026400-96057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:96034200-96079200	Weak transcription	Fetal Kidney	kidney
5	chr4:96034800-96060600	Weak transcription	Ovary	ovary
6	chr4:96047400-96060600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:96051400-96055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:96051400-96075800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:96051800-96055400	Strong transcription	Dnd41	blood
10	chr4:96051800-96055800	Weak transcription	Fetal Lung	lung
11	chr4:96052400-96055400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:96053000-96061600	Weak transcription	Fetal Thymus	thymus
13	chr4:96054200-96055600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:96054200-96084000	Weak transcription	A549	lung
15	chr4:96054600-96055600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:96054800-96060400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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