Variant report

Variant	rs1504643
Chromosome Location	chr8:122235034-122235035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10098740	0.82[ASN][1000 genomes]
rs10505395	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956009	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11777604	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11777678	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1504641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1504642	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1504644	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504645	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1587833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16894956	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35731592	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56109353	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56134460	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60833458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713417	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72713422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841368	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1021839	chr8:122173682-122240824	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv981893	chr8:122233116-122236223	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122233600-122235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:122234200-122235200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:122234200-122235400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:122234400-122235200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:122234800-122235400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:122235000-122236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:122235000-122239200	Weak transcription	iPS-18 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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