Variant report

Variant	rs28550966
Chromosome Location	chr5:118229681-118229682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12108713	0.96[EUR][1000 genomes]
rs12109512	0.96[EUR][1000 genomes]
rs12109542	0.86[EUR][1000 genomes]
rs12109733	0.96[EUR][1000 genomes]
rs12109968	0.96[EUR][1000 genomes]
rs12109982	0.96[EUR][1000 genomes]
rs12109987	0.96[EUR][1000 genomes]
rs12109992	0.96[EUR][1000 genomes]
rs1366457	0.96[EUR][1000 genomes]
rs1510969	1.00[EUR][1000 genomes]
rs17144680	0.96[EUR][1000 genomes]
rs17144684	0.96[EUR][1000 genomes]
rs17144687	0.96[EUR][1000 genomes]
rs17144694	0.96[EUR][1000 genomes]
rs17144711	0.92[EUR][1000 genomes]
rs17144840	0.96[EUR][1000 genomes]
rs17164564	0.96[EUR][1000 genomes]
rs2161348	1.00[EUR][1000 genomes]
rs34164145	0.96[EUR][1000 genomes]
rs56292256	0.92[EUR][1000 genomes]
rs72784022	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv882771	chr5:118170135-118230640	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv882772	chr5:118173127-118230640	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882773	chr5:118175640-118241854	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv599563	chr5:118191798-118241854	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118216600-118244800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:118218800-118240600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:118225000-118247000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:118227400-118231400	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:118227400-118270600	Weak transcription	Ovary	ovary
7	chr5:118229200-118231600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:118229400-118231200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:118229600-118231400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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