Variant report

Variant	rs12989474
Chromosome Location	chr2:210351119-210351120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12988428	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988648	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12996619	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12997113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13005787	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13015411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13020911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027280	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030060	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34173247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34210024	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34382912	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34628265	0.83[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35520781	0.95[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	0.81[AFR][1000 genomes];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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210332800-210351200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:210338000-210357400	Weak transcription	Aorta	Aorta
3	chr2:210339200-210359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:210339200-210360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:210341800-210352600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:210342000-210352800	Weak transcription	Left Ventricle	heart
7	chr2:210342000-210353600	Weak transcription	Fetal Brain Male	brain
8	chr2:210345200-210355200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:210347000-210352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:210348800-210352600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:210348800-210352800	Weak transcription	Ovary	ovary
12	chr2:210349600-210351600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr2:210349800-210351800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:210350000-210352000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:210350600-210352000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:210351000-210351200	ZNF genes & repeats	Fetal Brain Female	brain

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