Variant report

Variant	rs4849199
Chromosome Location	chr2:114119809-114119810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4849200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849202	0.84[ASN][1000 genomes]
rs62158215	0.86[ASN][1000 genomes]
rs6739740	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4849199	ACOXL	cis	parietal	SCAN
rs4849199	IL1F5	cis	parietal	SCAN
rs4849199	BCL2L11	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114106800-114129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114110600-114124600	Weak transcription	A549	lung
3	chr2:114114400-114122600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:114115800-114120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:114116800-114121000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:114116800-114126200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:114117000-114126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:114117400-114126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:114117400-114126600	Weak transcription	NHEK	skin
10	chr2:114117600-114124400	Weak transcription	HMEC	breast
11	chr2:114118400-114122600	Weak transcription	HSMMtube	muscle
12	chr2:114118600-114120000	Enhancers	Lung	lung
13	chr2:114119200-114122000	Enhancers	Fetal Muscle Leg	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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