Variant report

Variant	rs2322351
Chromosome Location	chr4:142822099-142822100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17464397	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17464951	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28465591	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28540217	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59068660	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62327868	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62327870	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62327872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62327878	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62327890	0.83[EUR][1000 genomes]
rs6846801	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6848036	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9684916	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9993798	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	nsv1027004	chr4:142487721-143007320	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830095	chr4:142695078-142884988	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142820600-142822200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:142820600-142823800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:142820800-142823000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:142821000-142822600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:142821000-142826400	Weak transcription	Osteobl	bone
6	chr4:142821200-142826400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:142821400-142823000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:142821400-142826400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:142821600-142822400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:142821600-142826600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:142821800-142822400	Enhancers	Thymus	Thymus
12	chr4:142821800-142823000	Enhancers	Fetal Thymus	thymus
13	chr4:142822000-142822400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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

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