Variant report

Variant	rs5998428
Chromosome Location	chr22:32736376-32736377
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:13)

rs_ID	r²[population]
rs135414	0.97[ASN][1000 genomes]
rs1883223	0.99[ASN][1000 genomes]
rs2014137	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2413108	0.97[ASN][1000 genomes]
rs4343557	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56027806	0.92[ASN][1000 genomes]
rs5749406	0.97[ASN][1000 genomes]
rs5749407	0.84[ASN][1000 genomes]
rs5753996	0.80[ASN][1000 genomes]
rs5753998	0.89[ASN][1000 genomes]
rs5994542	0.85[ASN][1000 genomes]
rs5994547	0.98[ASN][1000 genomes]
rs5998420	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32731000-32737200	Weak transcription	Right Atrium	heart
2	chr22:32731000-32737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32732200-32737600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:32733400-32736400	Weak transcription	Brain Germinal Matrix	brain
5	chr22:32734400-32736400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:32734600-32736600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:32735400-32736800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:32735400-32739600	Weak transcription	HUVEC	blood vessel
9	chr22:32736000-32736800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr22:32736000-32737800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:32736200-32736400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr22:32736200-32736400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr22:32736200-32736400	Bivalent Enhancer	HepG2	liver
14	chr22:32736200-32736600	Bivalent Enhancer	Brain Anterior Caudate	brain
15	chr22:32736200-32736600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
16	chr22:32736200-32737000	Active TSS	Brain Substantia Nigra	brain

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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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