Variant report

Variant	rs4982483
Chromosome Location	chr14:22140027-22140028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10137047	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10138379	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10138803	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs10143044	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs10145663	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10146733	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs10147663	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10151604	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1076545	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11157094	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs12435524	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap]
rs12436422	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs12436446	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs12717305	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2204931	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28698926	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35762321	0.93[EUR][1000 genomes]
rs3748364	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4982482	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571976	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6571990	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7144733	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs725891	1.00[CEU][hapmap]
rs8006599	0.87[CEU][hapmap]
rs8008166	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap]
rs8013567	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8017708	1.00[CEU][hapmap]
rs9635159	0.82[CEU][hapmap]

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	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers 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	31 gene(s)	inside rSNPs	diseases
2	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
3	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv901479	chr14:22102800-22146832	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22135200-22140200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:22140000-22140800	Enhancers	HUVEC	blood vessel

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