Variant report

Variant	rs7288487
Chromosome Location	chr22:33430608-33430609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2016156	1.00[EUR][1000 genomes]
rs56329350	1.00[EUR][1000 genomes]
rs57190782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73410650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881906	1.00[EUR][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	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
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33415000-33434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:33417400-33430800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr22:33422600-33431000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:33427600-33430800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:33428000-33430800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:33428000-33431000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:33428600-33430800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:33429000-33430800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:33430000-33430800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:33430600-33430800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr22:33430600-33431200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
12	chr22:33430600-33431200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr22:33430600-33431600	Enhancers	Liver	Liver
14	chr22:33430600-33432000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr22:33430600-33432200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr22:33430600-33432400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr22:33430600-33432600	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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