Variant report

Variant	rs10507208
Chromosome Location	chr12:106350256-106350257
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507206	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11112809	0.98[ASN][1000 genomes]
rs11832233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11834252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1344565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421448	0.97[ASN][1000 genomes]
rs1421449	0.97[ASN][1000 genomes]
rs17037888	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17037895	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037905	1.00[ASN][1000 genomes]
rs17037907	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037908	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037910	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17037913	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2080754	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2160990	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58383907	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs59302317	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59403929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59613985	0.97[ASN][1000 genomes]
rs59695411	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61577537	0.89[ASN][1000 genomes]
rs7139318	0.97[ASN][1000 genomes]
rs7297644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7299253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73391298	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73393231	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73393236	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73393251	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73393253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73393255	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73393256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7956779	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:25 , 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	chr12:106348600-106350600	Enhancers	Right Ventricle	heart
5	chr12:106348800-106350400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:106348800-106350600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:106348800-106350800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:106348800-106351600	Enhancers	HSMMtube	muscle
9	chr12:106349000-106350600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106349200-106350600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:106349400-106351800	Enhancers	K562	blood
12	chr12:106349600-106353600	Weak transcription	Aorta	Aorta
13	chr12:106349600-106353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:106349600-106353800	Weak transcription	NHEK	skin
15	chr12:106349600-106354200	Weak transcription	Right Atrium	heart
16	chr12:106349600-106354200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:106349600-106354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:106349800-106353800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:106349800-106353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:106349800-106353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:106349800-106353800	Weak transcription	HMEC	breast
22	chr12:106350000-106354200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:106350200-106350400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:106350200-106350800	Enhancers	Left Ventricle	heart
25	chr12:106350200-106354200	Weak transcription	HSMM	muscle

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