Variant report

Variant	rs7300551
Chromosome Location	chr12:124630304-124630305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10744165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057471	1.00[ASN][1000 genomes]
rs11057521	1.00[ASN][1000 genomes]
rs12809315	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813142	1.00[ASN][1000 genomes]
rs12827974	1.00[ASN][1000 genomes]
rs12832596	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660813	1.00[ASN][1000 genomes]
rs7136170	1.00[ASN][1000 genomes]
rs7302202	1.00[ASN][1000 genomes]
rs7312585	1.00[ASN][1000 genomes]
rs7315307	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961727	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962075	1.00[ASN][1000 genomes]
rs7971227	1.00[ASN][1000 genomes]
rs7975859	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv520633	chr12:124548394-124683205	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124627200-124632000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:124628800-124630600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:124629000-124630400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:124629400-124630400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr12:124629400-124630400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:124629800-124631600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:124629800-124631600	Weak transcription	Fetal Stomach	stomach
8	chr12:124629800-124632000	Weak transcription	Fetal Lung	lung
9	chr12:124630000-124630400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:124630000-124630400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:124630000-124630800	Bivalent Enhancer	ES-UCSF4 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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