Variant report

Variant	rs6710412
Chromosome Location	chr2:114100028-114100029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11894313	0.80[EUR][1000 genomes]
rs2001351	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2004323	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2863958	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4088308	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55637730	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55769337	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55895659	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56082174	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56088998	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56111627	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56215109	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59766856	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60409272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60522356	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60600282	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62158165	0.89[EUR][1000 genomes]
rs72611917	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72611918	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72611919	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72611921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72611922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:26 , 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	chr2:114098000-114107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:114098200-114100200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:114098200-114100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:114098200-114100400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:114098200-114101000	Weak transcription	HMEC	breast
9	chr2:114098200-114101600	Weak transcription	HSMM	muscle
10	chr2:114098200-114114800	Weak transcription	NHEK	skin
11	chr2:114098800-114100400	Enhancers	Fetal Intestine Large	intestine
12	chr2:114098800-114100400	Enhancers	Fetal Stomach	stomach
13	chr2:114099000-114100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:114099000-114101000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:114099200-114100200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:114099200-114100200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:114099400-114100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:114099400-114100200	Weak transcription	A549	lung
19	chr2:114099400-114100400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:114099400-114116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:114099600-114101000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:114099800-114100600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:114100000-114100200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:114100000-114100400	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:114100000-114100800	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:114100000-114101000	Enhancers	Monocytes-CD14+_RO01746	blood

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