Variant report

Variant	rs681397
Chromosome Location	chr11:57682011-57682012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57677764..57679470-chr11:57681017..57682811,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10792118	0.90[EUR][1000 genomes]
rs10896644	0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs10896653	0.81[ASN][1000 genomes]
rs11229109	0.84[YRI][hapmap]
rs11229170	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11229171	0.90[EUR][1000 genomes]
rs11229172	0.90[EUR][1000 genomes]
rs11229173	0.88[EUR][1000 genomes]
rs11229183	0.88[EUR][1000 genomes]
rs11570176	0.84[YRI][hapmap]
rs11570181	0.84[YRI][hapmap]
rs12366063	0.88[EUR][1000 genomes]
rs12420220	0.88[EUR][1000 genomes]
rs17455422	0.84[YRI][hapmap]
rs36036499	0.83[YRI][hapmap]
rs4245215	0.89[EUR][1000 genomes]
rs585761	0.81[ASN][1000 genomes]
rs588713	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs588808	0.91[ASN][1000 genomes]
rs591322	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs592785	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs593239	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs600488	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs602861	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs606731	0.91[EUR][1000 genomes]
rs615133	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs616911	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs626043	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs627145	0.81[ASN][1000 genomes]
rs633129	0.96[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs636388	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs644219	0.81[ASN][1000 genomes]
rs645145	0.81[ASN][1000 genomes]
rs652191	0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs653889	0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs6591443	0.88[EUR][1000 genomes]
rs659165	0.81[ASN][1000 genomes]
rs662638	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs671508	0.81[ASN][1000 genomes]
rs682258	0.81[ASN][1000 genomes]
rs686489	0.83[ASN][1000 genomes]
rs7115528	0.84[ASN][1000 genomes]
rs7119973	0.88[EUR][1000 genomes]
rs7120868	0.84[YRI][hapmap]
rs7943793	0.81[AMR][1000 genomes];0.90[EUR][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	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs681397	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs681397	YPEL4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57680000-57687800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57680400-57682400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:57681400-57682200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:57682000-57682200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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