Variant report

Variant	rs607800
Chromosome Location	chr11:120863568-120863569
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	chr11:120855990..120858332-chr11:120862136..120864842,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10750179	0.95[ASN][1000 genomes]
rs11218094	0.95[CHB][hapmap];0.94[ASN][1000 genomes]
rs1621211	0.85[ASN][1000 genomes]
rs2510639	0.83[ASN][1000 genomes]
rs3781817	0.82[MEX][hapmap]
rs478015	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs479160	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs513548	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs524209	0.81[ASN][1000 genomes]
rs536333	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs536447	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs557501	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs560092	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs565597	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs595851	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs596869	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs598582	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs601817	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs608154	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs611065	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs646543	0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs652418	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs670413	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676426	0.84[ASN][1000 genomes]
rs7128009	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7939112	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7948885	0.86[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3376837	chr11:120860642-120865340	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs607800	BUD13	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120858000-120868800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:120860400-120864200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:120860400-120864400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:120860400-120868000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:120860600-120863600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:120860800-120864000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:120861000-120864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:120861600-120863600	Enhancers	Fetal Lung	lung
9	chr11:120862600-120864600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:120862800-120864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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