Variant report

Variant	rs10172452
Chromosome Location	chr2:142942925-142942926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10203104	0.88[AFR][1000 genomes]
rs12618743	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12691640	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13009076	0.88[AFR][1000 genomes]
rs13382591	0.88[AFR][1000 genomes]
rs13390215	0.88[AFR][1000 genomes]
rs13397824	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13417059	0.88[AFR][1000 genomes]
rs16856955	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28501232	0.88[AFR][1000 genomes]
rs34026886	0.88[AFR][1000 genomes]
rs68039298	0.88[AFR][1000 genomes]
rs68068546	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71417174	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997274	chr2:142760393-143599193	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1006247	chr2:142851056-143289465	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv875255	chr2:142894573-142963976	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875256	chr2:142894573-142994328	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv875257	chr2:142894573-143041082	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv459685	chr2:142909185-142963976	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv583239	chr2:142909185-142963976	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142934600-142943200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr2:142935200-142943200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:142938800-142943000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:142938800-142943400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:142939000-142943000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:142939200-142943000	Weak transcription	HepG2	liver
7	chr2:142940200-142948200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:142942200-142943000	Enhancers	HUVEC	blood vessel
9	chr2:142942600-142943400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:142942600-142944000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:142942600-142944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:142942600-142944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:142942600-142944600	Enhancers	Dnd41	blood
14	chr2:142942800-142943400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:142942800-142944000	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:142942800-142944000	Enhancers	Hela-S3	cervix

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

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