Variant report

Variant	rs13408747
Chromosome Location	chr2:48660573-48660574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48657438..48661343-chr2:48665972..48669898,5	K562	blood:

Variant related genes	Relation type
ENSG00000272663	Chromatin interaction
ENSG00000162869	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10164456	1.00[AMR][1000 genomes]
rs10165262	1.00[AMR][1000 genomes]
rs10167097	1.00[AMR][1000 genomes]
rs10168301	1.00[AMR][1000 genomes]
rs10169977	1.00[AMR][1000 genomes]
rs10177012	1.00[AMR][1000 genomes]
rs10178938	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10180159	1.00[AMR][1000 genomes]
rs10183526	1.00[AMR][1000 genomes]
rs10184942	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10187019	1.00[AMR][1000 genomes]
rs10197056	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10198245	1.00[AMR][1000 genomes]
rs10199098	1.00[AMR][1000 genomes]
rs10199615	1.00[AMR][1000 genomes]
rs10199764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200180	1.00[AMR][1000 genomes]
rs10204343	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10206551	1.00[AMR][1000 genomes]
rs10208042	1.00[AMR][1000 genomes]
rs12328834	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12329068	1.00[AMR][1000 genomes]
rs13390201	1.00[AMR][1000 genomes]
rs13391880	1.00[AMR][1000 genomes]
rs13396735	1.00[AMR][1000 genomes]
rs13399261	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402261	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410143	1.00[AMR][1000 genomes]
rs13418349	1.00[AMR][1000 genomes]
rs13419757	0.83[AFR][1000 genomes]
rs13422341	1.00[AMR][1000 genomes]
rs13424478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13432235	1.00[AMR][1000 genomes]
rs28623311	1.00[AMR][1000 genomes]
rs28775335	1.00[AMR][1000 genomes]
rs28784960	1.00[AMR][1000 genomes]
rs28893847	1.00[AMR][1000 genomes]
rs7340280	1.00[AMR][1000 genomes]
rs7355330	1.00[AMR][1000 genomes]
rs9653522	1.00[AMR][1000 genomes]
rs9653523	1.00[AMR][1000 genomes]
rs9653524	1.00[AMR][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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:48653600-48661200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:48655800-48660800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:48659600-48660600	Enhancers	HepG2	liver
4	chr2:48660000-48660600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr2:48660000-48664000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:48660200-48660600	Enhancers	Liver	Liver
7	chr2:48660200-48661000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:48660400-48660600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:48660400-48661000	Enhancers	NHEK	skin

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