Variant report

Variant	rs55666589
Chromosome Location	chr2:187569492-187569493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187569295..187572206-chr2:187573308..187575633,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10178617	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10211436	1.00[ASN][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17406098	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122176	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594701	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595392	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595394	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595398	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682850	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682857	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682862	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3114944	1.00[ASN][1000 genomes]
rs56088351	0.89[EUR][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs62200585	1.00[ASN][1000 genomes]
rs7564965	1.00[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr2:187560400-187579400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:187560600-187575400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:187560600-187582200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:187560600-187584200	Weak transcription	Fetal Lung	lung
5	chr2:187561400-187577800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:187563000-187570200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:187563600-187570000	Weak transcription	Fetal Brain Male	brain
8	chr2:187564200-187570000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:187565000-187570000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:187567000-187574800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:187567200-187569600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr2:187567400-187581400	Weak transcription	Fetal Brain Female	brain
13	chr2:187568200-187569600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:187568400-187570000	Weak transcription	Brain Angular Gyrus	brain
15	chr2:187568600-187571800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:187569200-187571000	Enhancers	Brain Substantia Nigra	brain
17	chr2:187569400-187570200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:187569400-187570600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:187569400-187571200	Enhancers	Brain Cingulate Gyrus	brain

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