Variant report

Variant	rs1038371
Chromosome Location	chr2:111775206-111775207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111774043..111778118-chr2:111778491..111781647,4	K562	blood:
2	chr2:111774043..111776327-chr2:111778491..111780974,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10167918	0.82[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.80[TSI][hapmap]
rs10181859	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10191949	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10197016	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1157454	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11894723	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12105855	1.00[CEU][hapmap]
rs12991739	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12993549	0.95[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs12997152	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13013712	1.00[ASN][1000 genomes]
rs13018462	1.00[CHB][hapmap]
rs13024859	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13382791	1.00[CHB][hapmap]
rs1471692	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs1483534	0.95[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1483536	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17482961	0.96[GIH][hapmap]
rs17548346	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4848366	0.95[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4849314	0.86[CEU][hapmap]
rs4849325	0.82[EUR][1000 genomes]
rs4849331	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62161543	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6542245	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs6542250	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6737041	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7581900	0.85[EUR][1000 genomes]
rs7589645	0.95[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs7606298	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs958347	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.84[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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1038371	BUB1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111770200-111786600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111772200-111777200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:111772800-111780200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:111773600-111775600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:111774200-111775400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:111774600-111776200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:111775200-111786400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:111775200-111787800	Weak transcription	Spleen	Spleen

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