Variant report

Variant	rs11616099
Chromosome Location	chr12:106053245-106053246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11613028	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17266153	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61941483	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][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	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv560054	chr12:106048142-106083042	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106051600-106055200	Enhancers	Right Atrium	heart
2	chr12:106051600-106055400	Enhancers	Fetal Muscle Leg	muscle
3	chr12:106051800-106053800	Enhancers	Adipose Nuclei	Adipose
4	chr12:106052200-106053400	Weak transcription	Right Ventricle	heart
5	chr12:106052200-106055000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:106052200-106055200	Enhancers	HMEC	breast
7	chr12:106052400-106053800	Enhancers	Lung	lung
8	chr12:106052400-106054400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:106052400-106055000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:106052400-106055000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:106052400-106066400	Weak transcription	Aorta	Aorta
12	chr12:106052600-106053400	Enhancers	Brain Hippocampus Middle	brain
13	chr12:106052600-106054400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:106052600-106055000	Enhancers	NHEK	skin
15	chr12:106052600-106055400	Enhancers	HSMMtube	muscle
16	chr12:106052800-106053600	Enhancers	Esophagus	oesophagus
17	chr12:106053000-106053600	Enhancers	Brain Germinal Matrix	brain
18	chr12:106053000-106054000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:106053000-106054000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:106053000-106055000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:106053200-106053400	Enhancers	Spleen	Spleen
22	chr12:106053200-106053800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:106053200-106053800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:106053200-106053800	Enhancers	Fetal Lung	lung
25	chr12:106053200-106053800	Enhancers	Fetal Muscle Trunk	muscle
26	chr12:106053200-106053800	Enhancers	Left Ventricle	heart
27	chr12:106053200-106055000	Enhancers	Psoas Muscle	Psoas

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