Variant report

Variant	rs1871916
Chromosome Location	chr5:113083726-113083727
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10075511	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10463648	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11241233	0.86[ASN][1000 genomes]
rs11241236	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11738652	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11747079	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12054784	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12054785	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12055153	0.81[ASN][1000 genomes]
rs12189192	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12657961	0.89[JPT][hapmap]
rs12658572	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12719167	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1384273	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1384286	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1482360	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1482361	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1482362	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1482370	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1482371	0.85[ASN][1000 genomes]
rs1817487	0.82[AMR][1000 genomes]
rs1842763	0.81[ASN][1000 genomes]
rs1905136	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2128314	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2200091	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28814282	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2900079	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4705585	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372806	0.87[ASN][1000 genomes]
rs6871044	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6871344	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6886436	0.86[ASN][1000 genomes]
rs7731619	0.90[AMR][1000 genomes];0.90[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	nsv462390	chr5:113076095-113181289	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv471041	chr5:113076095-113181289	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv599408	chr5:113076095-113181289	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv432799	chr5:113077017-113150101	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv599409	chr5:113079354-113184211	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1018938	chr5:113080567-113185361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1871916	KCNN2	cis	parietal	SCAN
rs1871916	TICAM2	cis	cerebellum	SCAN
rs1871916	REEP5	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113083600-113084200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:113083600-113085000	Enhancers	HUVEC	blood vessel

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