Variant report

Variant	rs2863957
Chromosome Location	chr2:114089551-114089552
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114087006..114091652-chr2:114092667..114098276,5	MCF-7	breast:
2	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12616641	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1807282	0.94[EUR][1000 genomes]
rs1823125	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4618068	0.94[EUR][1000 genomes]
rs56093896	0.94[EUR][1000 genomes]
rs60873293	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62158166	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62158168	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62158169	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62158170	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62158206	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62158211	0.94[EUR][1000 genomes]
rs62158213	0.94[EUR][1000 genomes]
rs6737318	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7556815	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2863957	AC016745.3	cis	Thyroid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083400-114090200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114083400-114090800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:114083400-114108000	Weak transcription	Lung	lung
4	chr2:114086600-114089800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:114087200-114092000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:114087600-114090000	Weak transcription	Esophagus	oesophagus
7	chr2:114087600-114093600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:114088200-114093400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:114088400-114093200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:114088400-114093200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:114088400-114097600	Weak transcription	HSMM	muscle
12	chr2:114088400-114097800	Weak transcription	NH-A	brain
13	chr2:114088600-114093400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:114088600-114093400	Weak transcription	NHDF-Ad	bronchial
15	chr2:114088600-114097800	Weak transcription	HSMMtube	muscle
16	chr2:114088800-114090000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:114089000-114089600	Weak transcription	A549	lung
18	chr2:114089000-114089600	Weak transcription	NHEK	skin
19	chr2:114089000-114091000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:114089000-114097000	Weak transcription	HMEC	breast
21	chr2:114089200-114090200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:114089400-114091200	Weak transcription	Right Atrium	heart
23	chr2:114089400-114093600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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