Variant report

Variant	rs28373341
Chromosome Location	chr2:67544625-67544626
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10172022	0.84[EUR][1000 genomes]
rs10199961	0.85[EUR][1000 genomes]
rs10865359	0.87[EUR][1000 genomes]
rs12052705	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12053284	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1318886	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385154	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1384745	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17033374	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6719169	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72895607	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895618	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67539000-67551400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:67539200-67551800	Weak transcription	Fetal Kidney	kidney
3	chr2:67539400-67549000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:67541600-67546000	Weak transcription	Fetal Lung	lung
5	chr2:67544400-67544800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr2:67544400-67546600	Enhancers	Colon Smooth Muscle	Colon
7	chr2:67544600-67545200	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:67544600-67545600	Enhancers	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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