Variant report

Variant	rs4889235
Chromosome Location	chr16:81143638-81143639
allele	A/G
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	MAX	chr16:81143522-81143777	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:81143570-81143798	HepG2	liver:	n/a	n/a
3	MAX	chr16:81143507-81143839	K562	blood:	n/a	n/a
4	SUZ12	chr16:81143494-81143746	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr16:81143404-81143722	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81139217..81142095-chr16:81142911..81145394,3	K562	blood:

Variant related genes	Relation type
RNU6-1191P	TF binding region
ENSG00000252608	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1050364	0.81[EUR][1000 genomes]
rs10514513	0.81[EUR][1000 genomes]
rs10514514	0.81[EUR][1000 genomes]
rs10514515	0.81[EUR][1000 genomes]
rs11150341	0.94[ASN][1000 genomes]
rs11639681	0.94[ASN][1000 genomes]
rs12445303	0.81[EUR][1000 genomes]
rs12598621	0.81[EUR][1000 genomes]
rs1563077	0.81[EUR][1000 genomes]
rs16954572	0.81[EUR][1000 genomes]
rs16954582	0.81[EUR][1000 genomes]
rs2123624	0.87[ASN][1000 genomes]
rs2167888	0.87[ASN][1000 genomes]
rs2317082	0.87[ASN][1000 genomes]
rs2317085	0.81[EUR][1000 genomes]
rs28391685	0.81[EUR][1000 genomes]
rs28613188	0.81[EUR][1000 genomes]
rs28672349	0.81[EUR][1000 genomes]
rs4258631	0.86[ASN][1000 genomes]
rs4306521	0.81[EUR][1000 genomes]
rs4324141	0.81[EUR][1000 genomes]
rs4324142	0.81[EUR][1000 genomes]
rs4324143	0.81[EUR][1000 genomes]
rs4454990	0.81[EUR][1000 genomes]
rs4888124	0.97[ASN][1000 genomes]
rs4889227	0.81[EUR][1000 genomes]
rs4889231	0.81[EUR][1000 genomes]
rs56032321	0.81[EUR][1000 genomes]
rs56119129	0.81[EUR][1000 genomes]
rs56375210	0.82[EUR][1000 genomes]
rs56395947	0.81[EUR][1000 genomes]
rs59177227	0.81[EUR][1000 genomes]
rs59685942	0.81[EUR][1000 genomes]
rs7188012	0.88[ASN][1000 genomes]
rs7188508	0.81[EUR][1000 genomes]
rs7194342	0.94[ASN][1000 genomes]
rs7204040	0.81[EUR][1000 genomes]
rs73597265	0.83[ASN][1000 genomes]
rs8043828	0.95[ASN][1000 genomes]
rs8052490	0.81[EUR][1000 genomes]
rs8054182	0.91[ASN][1000 genomes]
rs8054611	0.92[ASN][1000 genomes]
rs8056972	0.81[EUR][1000 genomes]
rs8059153	0.92[ASN][1000 genomes]
rs8059318	0.91[ASN][1000 genomes]
rs8062357	0.96[ASN][1000 genomes]
rs8177940	0.81[EUR][1000 genomes]
rs8177943	0.81[EUR][1000 genomes]
rs8177948	0.81[EUR][1000 genomes]
rs8177950	0.81[EUR][1000 genomes]
rs9923732	0.81[EUR][1000 genomes]
rs9925940	0.81[EUR][1000 genomes]
rs9925943	0.81[EUR][1000 genomes]
rs9926174	0.81[EUR][1000 genomes]
rs9929586	0.81[EUR][1000 genomes]
rs9933184	0.81[EUR][1000 genomes]
rs9938965	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases
5	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv530715	chr16:81117168-81252875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv907005	chr16:81121353-81194912	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1067144	chr16:81129298-81181641	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1059006	chr16:81139073-81155094	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1063460	chr16:81139073-81157385	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4889235	CENPN	Cis_1M	lymphoblastoid	RTeQTL
rs4889235	GCSH///LOC654085///LOC730107	Cis_1M	lymphoblastoid	RTeQTL
rs4889235	ATMIN	cis	Muscle Skeletal	GTEx
rs4889235	C16orf46	Cis_1M	lymphoblastoid	RTeQTL
rs4889235	GCSH///LOC730107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81130000-81187600	Weak transcription	Right Atrium	heart
2	chr16:81141200-81156600	Weak transcription	Brain Angular Gyrus	brain
3	chr16:81141200-81169600	Weak transcription	Brain Anterior Caudate	brain
4	chr16:81141400-81150800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81141400-81153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:81141400-81169600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr16:81141400-81169600	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:81141600-81147400	Weak transcription	Adipose Nuclei	Adipose
9	chr16:81143400-81144000	Enhancers	Spleen	Spleen

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