Variant report

Variant	rs12274300
Chromosome Location	chr11:120580038-120580039
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120572331..120575238-chr11:120578976..120580756,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11217978	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11217979	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11217980	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11217981	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11217983	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11217984	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11217987	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11217988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217989	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12270261	0.81[CEU][hapmap]
rs12270409	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12272864	0.82[CEU][hapmap]
rs12276408	0.80[CHB][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12276440	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12278795	0.81[CEU][hapmap]
rs12280296	0.81[CEU][hapmap]
rs12281464	0.91[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12281614	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12291927	0.82[CEU][hapmap]
rs12293393	0.81[CEU][hapmap]
rs12294858	0.85[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12295113	0.81[CEU][hapmap]
rs12295200	0.82[CEU][hapmap]
rs17124211	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2846109	0.81[CEU][hapmap]
rs2852225	0.81[CEU][hapmap]
rs2852227	0.81[CEU][hapmap];0.80[ASN][1000 genomes]
rs28781001	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61901379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61901380	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61902685	0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs61902688	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7102869	0.82[CEU][hapmap]
rs7103021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7103228	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7103418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7119619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120727	0.80[ASN][1000 genomes]
rs7944756	0.91[CEU][hapmap]
rs7946325	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9630199	0.90[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9630200	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054407	chr11:120535570-120630114	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1053607	chr11:120540795-120802006	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3693392	chr11:120549745-120628012	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120568000-120580600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:120570000-120581600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:120578200-120580600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:120578600-120581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120578800-120580400	Weak transcription	Fetal Lung	lung
6	chr11:120578800-120580800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:120578800-120581000	Weak transcription	Ovary	ovary
8	chr11:120579000-120580600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:120579000-120581200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:120579000-120583000	Enhancers	Fetal Intestine Large	intestine
11	chr11:120579200-120580200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:120579200-120580200	Enhancers	Fetal Intestine Small	intestine
13	chr11:120579200-120580400	Enhancers	GM12878-XiMat	blood
14	chr11:120579200-120585200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:120579400-120580400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:120579400-120580800	Enhancers	HepG2	liver
17	chr11:120579600-120581000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:120579800-120581200	Weak transcription	Left Ventricle	heart
19	chr11:120579800-120581400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:120580000-120580200	Enhancers	Right Atrium	heart
21	chr11:120580000-120585800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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