Variant report

Variant	rs13127992
Chromosome Location	chr4:129966713-129966714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129937036..129939500-chr4:129965984..129968152,2	K562	blood:
2	chr4:129957878..129959875-chr4:129966439..129968014,2	K562	blood:
3	chr4:129958375..129960190-chr4:129966439..129968736,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10518543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12648004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12651152	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13101732	0.87[AMR][1000 genomes]
rs13106626	0.96[ASN][1000 genomes]
rs13111663	0.81[EUR][1000 genomes]
rs13124870	0.96[ASN][1000 genomes]
rs13126896	0.92[EUR][1000 genomes]
rs13133315	1.00[AFR][1000 genomes]
rs13136209	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13138537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13139306	0.93[ASN][1000 genomes]
rs17014149	0.93[ASN][1000 genomes]
rs17014190	0.82[ASN][1000 genomes]
rs17184802	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068135	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068136	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28643269	0.82[ASN][1000 genomes]
rs33999735	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34044129	0.88[EUR][1000 genomes]
rs34302928	0.93[ASN][1000 genomes]
rs34483420	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35002630	0.92[EUR][1000 genomes]
rs35053690	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35128288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35149191	0.96[ASN][1000 genomes]
rs35199409	0.93[ASN][1000 genomes]
rs35259423	0.85[AMR][1000 genomes]
rs35349408	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35388412	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35412182	0.89[ASN][1000 genomes]
rs35879843	0.87[AMR][1000 genomes]
rs36000518	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36101862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36124477	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36128858	0.96[ASN][1000 genomes]
rs71612197	0.92[EUR][1000 genomes]
rs71612199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71613905	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71613907	0.96[ASN][1000 genomes]
rs71613908	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613914	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
2	chr4:129951200-129967200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:129951400-129976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:129961400-129967800	Weak transcription	HSMM	muscle

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