Variant report

Variant	rs2283258
Chromosome Location	chr11:17473437-17473438
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	chr11:17471704..17474576-chr11:17475310..17477119,2	MCF-7	breast:
2	chr11:17467958..17471223-chr11:17471420..17474458,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10400389	0.80[CHB][hapmap]
rs10766400	0.83[CEU][hapmap]
rs11024295	0.81[CHB][hapmap]
rs11024296	0.82[CHB][hapmap]
rs11024299	0.84[CHB][hapmap]
rs11821723	0.83[CEU][hapmap]
rs11826760	0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap]
rs12285976	0.85[CHB][hapmap]
rs17775256	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs2040653	0.83[CEU][hapmap]
rs2057661	0.90[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs2073585	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs2073586	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2237966	0.85[CHB][hapmap];0.83[CHD][hapmap];0.85[MEX][hapmap]
rs2237968	0.89[CHB][hapmap]
rs2237971	0.82[CHB][hapmap]
rs2237974	0.85[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs2237975	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2237976	0.85[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2237977	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2237979	0.83[CEU][hapmap];0.81[MEX][hapmap]
rs2283254	0.85[CHB][hapmap]
rs2283259	0.95[ASN][1000 genomes]
rs3819517	0.81[CHB][hapmap]
rs3819520	0.85[CHB][hapmap]
rs3819522	0.85[CHB][hapmap]
rs3819523	0.85[CHB][hapmap]
rs4148601	0.84[CHB][hapmap]
rs4148604	0.85[CHB][hapmap]
rs4148609	0.85[CHB][hapmap]
rs4148610	0.85[CHB][hapmap]
rs6486370	0.86[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs7105391	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs7105832	0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap]
rs7106250	0.85[CHB][hapmap]
rs7117162	0.83[CEU][hapmap]
rs7943461	0.85[CHB][hapmap]
rs7947326	0.83[CEU][hapmap]
rs886289	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs886291	0.87[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];0.82[GIH][hapmap]
rs886292	0.83[CEU][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2283258	ABCC8	cis	Muscle Skeletal	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17460800-17474000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:17461200-17497400	Weak transcription	Gastric	stomach
3	chr11:17465800-17481600	Weak transcription	Fetal Brain Female	brain
4	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:17466200-17473600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:17467400-17478600	Weak transcription	Dnd41	blood
7	chr11:17470200-17482000	Weak transcription	Brain Germinal Matrix	brain
8	chr11:17472400-17489600	Weak transcription	Brain Substantia Nigra	brain
9	chr11:17472800-17474600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:17472800-17474800	Strong transcription	Brain Anterior Caudate	brain
11	chr11:17473000-17473600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:17473000-17473800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:17473000-17474000	Strong transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:17473000-17474400	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr11:17473200-17473600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:17473200-17473600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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