Variant report

Variant	rs1496253
Chromosome Location	chr4:121604260-121604261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10015102	0.95[AFR][1000 genomes]
rs10021802	0.95[AFR][1000 genomes]
rs10024244	0.95[AFR][1000 genomes]
rs11098581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510719	0.95[AFR][1000 genomes]
rs12642805	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13148589	0.95[AFR][1000 genomes]
rs13148854	0.95[AFR][1000 genomes]
rs1353471	0.95[AFR][1000 genomes]
rs1390561	0.89[EUR][1000 genomes]
rs1496268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496270	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496274	0.95[AFR][1000 genomes]
rs1496277	0.90[EUR][1000 genomes]
rs1580743	0.95[AFR][1000 genomes]
rs1603393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826805	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1826807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1826809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845826	0.95[AFR][1000 genomes]
rs1845827	0.95[AFR][1000 genomes]
rs1874442	1.00[LWK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs28594189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246665	0.88[EUR][1000 genomes]
rs4833173	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833174	0.92[AFR][1000 genomes]
rs4833175	0.92[AFR][1000 genomes]
rs4833660	0.95[AFR][1000 genomes]
rs4833661	0.95[AFR][1000 genomes]
rs4833662	0.95[AFR][1000 genomes]
rs4833663	0.95[AFR][1000 genomes]
rs4833665	0.95[AFR][1000 genomes]
rs4833666	0.91[AFR][1000 genomes]
rs732128	0.88[AFR][1000 genomes]
rs7658066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs766624	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669360	0.95[AFR][1000 genomes]
rs937357	0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs937358	0.95[AFR][1000 genomes]
rs9998784	0.95[AFR][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	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121591200-121620600	Weak transcription	Left Ventricle	heart
2	chr4:121603800-121604600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:121604000-121604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:121604000-121604400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:121604000-121604400	Enhancers	HSMMtube	muscle
6	chr4:121604000-121604400	Enhancers	Osteobl	bone
7	chr4:121604000-121604600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:121604000-121605600	Enhancers	HSMM	muscle

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