Variant report

Variant	rs2351050
Chromosome Location	chr11:15584211-15584212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:15583949..15584538-chr16:17728737..17729237,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1010653	0.90[ASN][1000 genomes]
rs10766257	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs10766258	0.85[EUR][1000 genomes]
rs10766267	1.00[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes]
rs10766268	0.95[EUR][1000 genomes]
rs10766269	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10766271	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832446	0.85[EUR][1000 genomes]
rs10832452	0.84[EUR][1000 genomes]
rs10832466	0.95[EUR][1000 genomes]
rs10832471	0.96[EUR][1000 genomes]
rs10832472	0.96[EUR][1000 genomes]
rs10832474	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10832480	0.92[ASN][1000 genomes]
rs10832481	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11023593	0.90[EUR][1000 genomes]
rs11023595	0.85[EUR][1000 genomes]
rs11023596	0.85[EUR][1000 genomes]
rs11023597	0.85[EUR][1000 genomes]
rs11023598	0.85[EUR][1000 genomes]
rs11023600	0.89[EUR][1000 genomes]
rs11023609	0.95[EUR][1000 genomes]
rs11023612	0.90[EUR][1000 genomes]
rs11023644	0.92[ASN][1000 genomes]
rs11023650	0.91[ASN][1000 genomes]
rs12270000	0.90[EUR][1000 genomes]
rs12272473	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12284635	0.96[EUR][1000 genomes]
rs1552305	0.86[ASN][1000 genomes]
rs1880393	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1880395	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2351044	0.83[ASN][1000 genomes]
rs2351046	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2351057	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4032487	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4129900	0.85[EUR][1000 genomes]
rs4756814	0.92[ASN][1000 genomes]
rs6486251	0.87[EUR][1000 genomes]
rs7103393	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7106201	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7106594	0.85[EUR][1000 genomes]
rs7117096	0.92[ASN][1000 genomes]
rs7121567	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs729416	0.91[ASN][1000 genomes]
rs7927872	0.90[EUR][1000 genomes]
rs7934042	0.80[ASN][1000 genomes]

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	nsv1050475	chr11:15584061-15620602	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2351050	DKFZp686O24166	cis	cerebellum	SCAN
rs2351050	TMEM86A	cis	parietal	SCAN
rs2351050	COPB1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15574000-15591600	Weak transcription	Right Atrium	heart
2	chr11:15577400-15584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:15580400-15584400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:15581000-15584400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:15581000-15586800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:15581200-15587000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:15581800-15591000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr11:15582000-15584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:15583000-15587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:15583800-15585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:15583800-15585400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:15583800-15585400	Enhancers	Brain Germinal Matrix	brain
13	chr11:15584000-15585200	Enhancers	Brain Anterior Caudate	brain
14	chr11:15584200-15585200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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