Variant report

Variant	rs4272798
Chromosome Location	chr11:57743634-57743635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57735311..57737451-chr11:57741969..57744523,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10792118	0.80[AMR][1000 genomes]
rs11229170	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11229171	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11229172	0.80[AMR][1000 genomes]
rs11229173	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11229183	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11512731	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11512732	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12366063	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12420220	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4245215	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs602861	0.87[CEU][hapmap]
rs615133	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs616911	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61905278	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633129	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6591443	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7106195	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7119973	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71484480	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943793	0.82[AMR][1000 genomes];0.81[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv517822	chr11:57728993-57751001	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3421206	chr11:57743534-57743672	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4272798	TIMM10	cis	multi-tissue	Pritchard
rs4272798	YPEL4	cis	lung	GTEx
rs4272798	TIMM10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57738800-57745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57742600-57745200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:57742600-57745200	Weak transcription	Esophagus	oesophagus
4	chr11:57742600-57751000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:57742600-57751000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:57742800-57744000	Weak transcription	HepG2	liver
7	chr11:57742800-57744200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:57742800-57745000	Weak transcription	Pancreas	Pancrea
9	chr11:57742800-57745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:57742800-57747000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:57743400-57745000	Weak transcription	HSMM	muscle
12	chr11:57743600-57745000	Weak transcription	HSMMtube	muscle

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