Variant report

Variant	rs12997113
Chromosome Location	chr2:210355683-210355684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12986617	1.00[YRI][hapmap]
rs12988428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12989474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12990915	0.87[YRI][hapmap]
rs12992468	0.87[YRI][hapmap]
rs12993084	0.87[YRI][hapmap]
rs12993284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993506	0.87[YRI][hapmap]
rs12993627	0.87[YRI][hapmap]
rs12995238	1.00[YRI][hapmap]
rs12995429	1.00[YRI][hapmap]
rs12996619	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13000954	0.87[YRI][hapmap]
rs13005787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13014332	0.87[YRI][hapmap]
rs13015411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13015584	0.87[YRI][hapmap]
rs13020911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13022394	0.87[YRI][hapmap]
rs13022724	0.85[YRI][hapmap]
rs13025539	1.00[YRI][hapmap]
rs13027122	1.00[YRI][hapmap]
rs13027280	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027599	0.87[YRI][hapmap]
rs13030060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17236751	1.00[YRI][hapmap]
rs17237719	0.87[YRI][hapmap]
rs17237893	0.87[YRI][hapmap]
rs17238539	0.87[YRI][hapmap]
rs17316862	0.87[YRI][hapmap]
rs17316904	0.87[YRI][hapmap]
rs17316974	0.87[YRI][hapmap]
rs17317170	0.85[YRI][hapmap]
rs34173247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34210024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34382912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34628265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34807931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35174339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35241611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35520781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35887391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71420755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71420759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210338000-210357400	Weak transcription	Aorta	Aorta
2	chr2:210339200-210359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:210339200-210360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:210352000-210355800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:210353000-210358800	Weak transcription	Left Ventricle	heart
6	chr2:210354000-210359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:210354200-210360000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:210354800-210359800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:210355200-210359800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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