Variant report

Variant	rs498139
Chromosome Location	chr20:1692285-1692286
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr20:1692237-1692583	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SIRPB3P	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs12625431	0.81[CHB][hapmap]
rs1438106	0.81[CHB][hapmap]
rs1550265	0.90[CHB][hapmap]
rs1550266	0.81[CHB][hapmap]
rs169354	0.98[ASN][1000 genomes]
rs202464	0.98[ASN][1000 genomes]
rs202465	0.98[ASN][1000 genomes]
rs202472	0.94[ASN][1000 genomes]
rs202474	0.94[ASN][1000 genomes]
rs202475	0.94[ASN][1000 genomes]
rs202476	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202477	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs202493	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202494	0.98[ASN][1000 genomes]
rs202495	0.98[ASN][1000 genomes]
rs202496	0.98[ASN][1000 genomes]
rs202497	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202498	0.98[ASN][1000 genomes]
rs202499	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202500	0.98[ASN][1000 genomes]
rs202501	0.98[ASN][1000 genomes]
rs202502	0.98[ASN][1000 genomes]
rs202503	0.98[ASN][1000 genomes]
rs202504	0.96[ASN][1000 genomes]
rs202505	0.98[ASN][1000 genomes]
rs202506	0.97[ASN][1000 genomes]
rs202511	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202512	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202517	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs202519	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs202551	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs202552	0.81[CHB][hapmap]
rs2247997	0.99[ASN][1000 genomes]
rs4254564	0.81[CHB][hapmap]
rs4254565	0.80[CHB][hapmap]
rs4254566	0.81[CHB][hapmap]
rs4353709	0.81[CHB][hapmap]
rs4473456	0.81[CHB][hapmap]
rs480743	1.00[ASN][1000 genomes]
rs480769	1.00[ASN][1000 genomes]
rs482716	1.00[ASN][1000 genomes]
rs493466	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497134	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs513119	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513201	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514813	1.00[ASN][1000 genomes]
rs514965	1.00[ASN][1000 genomes]
rs515883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs515973	1.00[ASN][1000 genomes]
rs517578	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs528256	1.00[ASN][1000 genomes]
rs532097	1.00[ASN][1000 genomes]
rs544110	1.00[ASN][1000 genomes]
rs549733	0.99[ASN][1000 genomes]
rs572620	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs577238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs578127	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs578970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585046	0.99[ASN][1000 genomes]
rs588555	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs599837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs600303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs601652	1.00[ASN][1000 genomes]
rs6034368	0.81[CHB][hapmap]
rs6034370	0.81[CHB][hapmap]
rs6043722	0.81[CHB][hapmap]
rs6043726	0.81[CHB][hapmap]
rs615007	1.00[ASN][1000 genomes]
rs629812	1.00[ASN][1000 genomes]
rs629867	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629878	1.00[ASN][1000 genomes]
rs648051	0.94[ASN][1000 genomes]
rs659348	0.94[ASN][1000 genomes]
rs679310	1.00[ASN][1000 genomes]
rs692847	0.94[ASN][1000 genomes]
rs692891	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833894	chr20:1519433-1753366	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv531473	chr20:1532476-1864506	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv1063429	chr20:1679052-1706969	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1793674	chr20:1685595-1704114	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1688800-1693000	Weak transcription	HMEC	breast
2	chr20:1689400-1698200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr20:1689600-1693000	Weak transcription	K562	blood

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