Variant report

Variant	rs2197595
Chromosome Location	chr2:114114447-114114448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1191688	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1191689	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1191691	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1191696	0.85[EUR][1000 genomes]
rs1191698	0.83[EUR][1000 genomes]
rs12711766	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13427702	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1446620	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1838856	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1992775	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2008324	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2592415	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542128	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7425255	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114098200-114114800	Weak transcription	NHEK	skin
2	chr2:114099400-114116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:114101800-114115000	Weak transcription	HMEC	breast
4	chr2:114101800-114116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:114106800-114129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:114108600-114116200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:114110600-114124600	Weak transcription	A549	lung
8	chr2:114113600-114116200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:114113600-114116400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:114113800-114116200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:114114000-114116000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:114114000-114116600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:114114200-114115400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:114114400-114115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:114114400-114122600	Weak transcription	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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