Variant report

Variant	rs508404
Chromosome Location	chr1:78881538-78881539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10782664	0.81[EUR][1000 genomes]
rs10873980	0.81[ASN][1000 genomes]
rs10873983	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10873984	0.89[ASN][1000 genomes]
rs11162477	0.80[EUR][1000 genomes]
rs11162478	0.81[EUR][1000 genomes]
rs11162479	0.81[ASN][1000 genomes]
rs11162488	0.90[ASN][1000 genomes]
rs11162489	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11162490	0.90[ASN][1000 genomes]
rs11162492	0.82[ASN][1000 genomes]
rs11162493	0.82[ASN][1000 genomes]
rs1156031	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12024476	0.82[ASN][1000 genomes]
rs12049259	0.82[ASN][1000 genomes]
rs12073895	0.82[ASN][1000 genomes]
rs12080346	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12128334	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12717769	0.84[ASN][1000 genomes]
rs12740373	0.81[ASN][1000 genomes]
rs12752083	0.81[ASN][1000 genomes]
rs12756296	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1328447	0.80[EUR][1000 genomes]
rs1333069	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1571366	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1576806	0.81[ASN][1000 genomes]
rs1590313	0.82[ASN][1000 genomes]
rs1929982	0.89[ASN][1000 genomes]
rs2224674	0.86[ASN][1000 genomes]
rs2990698	0.85[ASN][1000 genomes]
rs4587523	0.83[ASN][1000 genomes]
rs4650348	0.81[ASN][1000 genomes]
rs473910	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs482493	0.86[ASN][1000 genomes]
rs490938	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs494981	0.84[ASN][1000 genomes]
rs521636	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs523464	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs525351	0.86[ASN][1000 genomes]
rs537086	0.86[ASN][1000 genomes]
rs538855	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs540903	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs551514	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs555475	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs571456	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs583964	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs585795	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs587996	0.85[ASN][1000 genomes]
rs591889	0.85[ASN][1000 genomes]
rs595489	0.81[EUR][1000 genomes]
rs604097	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs626063	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs631280	0.85[ASN][1000 genomes]
rs632184	0.85[ASN][1000 genomes]
rs639594	0.86[ASN][1000 genomes]
rs646012	0.83[ASN][1000 genomes]
rs648572	0.86[ASN][1000 genomes]
rs651313	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs663934	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs678443	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs689294	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7535841	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs789283	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv482697	chr1:78786028-78935333	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3434125	chr1:78872980-78890985	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3440860	chr1:78880464-78882512	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78879800-78884800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:78880600-78892000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:78881000-78884800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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