Variant report

Variant	rs17309518
Chromosome Location	chr2:210342252-210342253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13383482	0.85[EUR][1000 genomes]
rs13394033	0.85[EUR][1000 genomes]
rs16843062	0.92[EUR][1000 genomes]
rs16843177	0.92[EUR][1000 genomes]
rs17237076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17239083	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17308504	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17309028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17316313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17317645	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17317756	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs288095	0.92[EUR][1000 genomes]
rs58195909	0.96[EUR][1000 genomes]
rs59649490	0.96[EUR][1000 genomes]
rs59999353	0.96[EUR][1000 genomes]
rs60457662	0.96[EUR][1000 genomes]
rs73067004	0.96[EUR][1000 genomes]
rs73069087	0.96[EUR][1000 genomes]
rs73069088	0.96[EUR][1000 genomes]
rs73069096	0.96[EUR][1000 genomes]
rs7603804	0.92[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:19 , 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	chr2:210335600-210342400	Enhancers	Hela-S3	cervix
3	chr2:210338000-210357400	Weak transcription	Aorta	Aorta
4	chr2:210339200-210359800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:210339200-210360000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:210339800-210344600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:210341200-210342400	Enhancers	Fetal Kidney	kidney
8	chr2:210341600-210342800	Weak transcription	Fetal Heart	heart
9	chr2:210341600-210343600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:210341600-210345000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:210341800-210344800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:210341800-210352600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:210342000-210343400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:210342000-210344800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:210342000-210345200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:210342000-210346200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:210342000-210352800	Weak transcription	Left Ventricle	heart
18	chr2:210342000-210353600	Weak transcription	Fetal Brain Male	brain
19	chr2:210342200-210342600	Weak transcription	Fetal Brain Female	brain

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