Variant report

Variant	rs4613288
Chromosome Location	chr2:114122769-114122770
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13404831	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424459	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13424703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66713045	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66883518	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709057	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753362	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584888	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1002255	chr2:114120037-114236620	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 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	chr2:114116800-114126200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:114117000-114126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:114117400-114126600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:114117400-114126600	Weak transcription	NHEK	skin
7	chr2:114117600-114124400	Weak transcription	HMEC	breast
8	chr2:114120000-114124400	Weak transcription	Lung	lung
9	chr2:114121200-114123600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:114121800-114123800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:114121800-114124400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:114122400-114123600	Enhancers	Fetal Intestine Large	intestine
13	chr2:114122400-114123600	Enhancers	Fetal Muscle Leg	muscle
14	chr2:114122600-114122800	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:114122600-114123200	Enhancers	Psoas Muscle	Psoas
16	chr2:114122600-114124000	Enhancers	Fetal Intestine Small	intestine
17	chr2:114122600-114125400	Enhancers	HSMMtube	muscle

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

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