Variant report

Variant	rs4560230
Chromosome Location	chr22:33410205-33410206
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12158631	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12159195	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12160502	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994652	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994654	0.86[AMR][1000 genomes]
rs5998689	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998694	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998696	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5998697	0.86[AMR][1000 genomes]
rs73162045	1.00[ASN][1000 genomes]
rs73162064	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers 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	chr22:33402400-33414200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:33402600-33419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr22:33402800-33414600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr22:33403000-33420000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:33403400-33414000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:33403600-33415600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:33403800-33414600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:33403800-33417600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:33405400-33414600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:33406400-33414600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:33407400-33417000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:33408200-33411400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:33408400-33410800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:33408800-33410400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:33410200-33411200	Active TSS	Placenta	Placenta
16	chr22:33410200-33413000	Weak transcription	HepG2	liver

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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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