Variant report

Variant	rs2001351
Chromosome Location	chr2:114098929-114098930
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	chr2:113988656..113991624-chr2:114097575..114099389,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2004323	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2863958	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4088308	0.95[EUR][1000 genomes]
rs55637730	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55769337	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55809708	0.89[AMR][1000 genomes]
rs55895659	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56082174	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56088998	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56111627	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56215109	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57258055	0.84[AMR][1000 genomes]
rs59766856	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60409272	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60522356	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60600282	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62158165	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710412	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72611917	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72611918	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72611919	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72611921	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72611922	0.99[EUR][1000 genomes];0.93[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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083400-114108000	Weak transcription	Lung	lung
2	chr2:114093800-114100200	Weak transcription	NHDF-Ad	bronchial
3	chr2:114096800-114101600	Weak transcription	Right Atrium	heart
4	chr2:114097400-114099400	Enhancers	A549	lung
5	chr2:114097800-114099200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:114098000-114107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:114098200-114100200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:114098200-114100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:114098200-114100400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:114098200-114101000	Weak transcription	HMEC	breast
11	chr2:114098200-114101600	Weak transcription	HSMM	muscle
12	chr2:114098200-114114800	Weak transcription	NHEK	skin
13	chr2:114098600-114099200	Enhancers	Fetal Intestine Small	intestine
14	chr2:114098600-114099400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:114098800-114099200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:114098800-114099400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:114098800-114099400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:114098800-114099400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:114098800-114100400	Enhancers	Fetal Intestine Large	intestine
20	chr2:114098800-114100400	Enhancers	Fetal Stomach	stomach

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