Variant report

Variant	rs12789219
Chromosome Location	chr11:92568633-92568634
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:92562352..92565066-chr11:92567965..92570519,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10765565	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765566	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10765567	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10765568	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10830952	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11020072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020079	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020080	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11020082	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12789841	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34321934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34508481	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847540	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847541	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847544	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7101614	0.86[EUR][1000 genomes]
rs7118363	0.86[EUR][1000 genomes]
rs7939598	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043861	chr11:92357570-92689868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1044571	chr11:92495213-92742314	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92562200-92577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:92562600-92571800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:92562600-92573800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:92562600-92578600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:92562800-92571800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:92562800-92571800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:92562800-92572200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:92562800-92577800	Weak transcription	Fetal Brain Male	brain
9	chr11:92562800-92579000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:92563000-92571400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:92563000-92576000	Weak transcription	Fetal Brain Female	brain
12	chr11:92563200-92571800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:92563800-92572800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:92563800-92574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:92564200-92573400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:92564800-92569600	Strong transcription	Aorta	Aorta
17	chr11:92565000-92571800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:92565200-92570800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:92565600-92570800	Weak transcription	Fetal Thymus	thymus
20	chr11:92565800-92574800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:92565800-92577400	Weak transcription	Brain Angular Gyrus	brain
22	chr11:92566000-92577000	Weak transcription	Brain Germinal Matrix	brain
23	chr11:92567400-92571800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:92567800-92571800	Weak transcription	Fetal Stomach	stomach
25	chr11:92567800-92577400	Weak transcription	Brain Anterior Caudate	brain
26	chr11:92568000-92569000	Weak transcription	Fetal Lung	lung
27	chr11:92568000-92570400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:92568200-92570600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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