Variant report

Variant	rs11239271
Chromosome Location	chr10:45376294-45376295
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:45366357..45368046-chr10:45376025..45377596,2	K562	blood:
2	chr10:45360055..45361771-chr10:45374872..45377256,2	K562	blood:
3	chr10:45358806..45362184-chr10:45374031..45377195,7	MCF-7	breast:
4	chr10:45374438..45376422-chr10:45380219..45382953,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10736831	0.95[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10751360	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10751361	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793564	0.87[EUR][1000 genomes]
rs10793565	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10900123	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10900126	0.87[EUR][1000 genomes]
rs10900127	0.82[ASN][1000 genomes]
rs10900128	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10900129	0.85[ASN][1000 genomes]
rs11239274	0.85[ASN][1000 genomes]
rs12777258	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1408814	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2026428	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2065466	0.87[EUR][1000 genomes]
rs2281841	0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3740086	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3740087	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4245614	0.84[EUR][1000 genomes]
rs4268464	0.84[EUR][1000 genomes]
rs4481983	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4948645	0.84[EUR][1000 genomes]
rs4948925	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4948926	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4948927	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5000415	0.87[EUR][1000 genomes]
rs6593447	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7079573	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7903412	0.88[EUR][1000 genomes]
rs7909074	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879073	0.85[EUR][1000 genomes]
rs879074	0.85[EUR][1000 genomes]
rs914699	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1050496	chr10:45227530-45382154	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11239271	ZNF22	cis	cerebellum	SCAN
rs11239271	ALOX5	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45374800-45379200	Enhancers	Pancreas	Pancrea
2	chr10:45374800-45381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:45375000-45378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:45375200-45377000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:45375200-45377000	Weak transcription	Fetal Thymus	thymus
6	chr10:45375200-45377200	Weak transcription	Left Ventricle	heart
7	chr10:45375200-45378800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:45375200-45398600	Weak transcription	Right Atrium	heart
9	chr10:45375400-45376800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:45375400-45377000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:45375400-45377200	Weak transcription	Fetal Heart	heart
12	chr10:45375400-45377400	Weak transcription	Right Ventricle	heart
13	chr10:45375800-45384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:45376000-45376800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:45376200-45389600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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