Variant report

Variant	rs2048481
Chromosome Location	chr1:220511746-220511747
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:17)

rs_ID	r²[population]
rs10779403	0.95[ASN][1000 genomes]
rs11118517	0.95[ASN][1000 genomes]
rs11118519	0.95[ASN][1000 genomes]
rs12411005	0.81[ASN][1000 genomes]
rs1567602	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007362	0.87[ASN][1000 genomes]
rs17007491	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17007517	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61830864	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61830865	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832262	0.92[ASN][1000 genomes]
rs6541128	0.95[ASN][1000 genomes]
rs6541130	0.95[ASN][1000 genomes]
rs72730665	0.87[ASN][1000 genomes]
rs7529864	0.81[ASN][1000 genomes]
rs7554794	0.95[ASN][1000 genomes]
rs9793772	0.95[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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220509400-220512000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:220509400-220512000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:220509600-220512000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:220509600-220512000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:220509600-220512000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:220510000-220513200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:220510600-220513200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:220510800-220525600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:220511200-220512600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:220511200-220513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:220511200-220514600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:220511200-220515200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:220511200-220526400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:220511400-220512000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:220511600-220512000	Enhancers	iPS-20b 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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