Variant report

Variant	rs7299534
Chromosome Location	chr12:106350743-106350744
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12099498	0.86[AFR][1000 genomes]
rs1421455	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2111977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61179844	1.00[AFR][1000 genomes]
rs7309202	0.90[YRI][hapmap]

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	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv519500	chr12:106350456-106356170	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106340600-106355800	Weak transcription	Esophagus	oesophagus
2	chr12:106346200-106353800	Weak transcription	Lung	lung
3	chr12:106348200-106352000	Enhancers	Fetal Heart	heart
4	chr12:106348800-106350800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:106348800-106351600	Enhancers	HSMMtube	muscle
6	chr12:106349400-106351800	Enhancers	K562	blood
7	chr12:106349600-106353600	Weak transcription	Aorta	Aorta
8	chr12:106349600-106353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:106349600-106353800	Weak transcription	NHEK	skin
10	chr12:106349600-106354200	Weak transcription	Right Atrium	heart
11	chr12:106349600-106354200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:106349600-106354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:106349800-106353800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:106349800-106353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:106349800-106353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:106349800-106353800	Weak transcription	HMEC	breast
17	chr12:106350000-106354200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:106350200-106350800	Enhancers	Left Ventricle	heart
19	chr12:106350200-106354200	Weak transcription	HSMM	muscle
20	chr12:106350400-106351600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:106350600-106353000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:106350600-106353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:106350600-106354000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:106350600-106354600	Weak transcription	Right Ventricle	heart

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