Variant report

Variant	rs2080755
Chromosome Location	chr12:106351943-106351944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10507207	0.84[EUR][1000 genomes]
rs10861535	0.83[EUR][1000 genomes]
rs11112808	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11112810	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112812	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112815	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11608722	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11611601	0.85[EUR][1000 genomes]
rs11837217	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11837987	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12297788	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12425164	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12426791	0.85[EUR][1000 genomes]
rs12426802	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12582103	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12810562	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12814823	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815201	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12816747	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12818417	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12832619	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12833614	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1344566	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1344567	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1345543	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1362980	0.85[EUR][1000 genomes]
rs1362981	0.85[EUR][1000 genomes]
rs1421454	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1421456	0.83[AMR][1000 genomes]
rs1421457	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421458	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1421459	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1895105	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1895106	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2032772	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6539238	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6539239	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6539240	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6539241	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6539242	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7300069	0.85[EUR][1000 genomes]
rs7312545	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953002	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953243	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955474	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958273	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960459	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961513	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965501	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7969437	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971140	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7971261	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7973513	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7973846	0.85[EUR][1000 genomes]
rs7976523	0.85[EUR][1000 genomes]
rs9630290	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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	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:23 , 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	chr12:106349600-106353600	Weak transcription	Aorta	Aorta
5	chr12:106349600-106353800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:106349600-106353800	Weak transcription	NHEK	skin
7	chr12:106349600-106354200	Weak transcription	Right Atrium	heart
8	chr12:106349600-106354200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:106349600-106354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:106349800-106353800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:106349800-106353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:106349800-106353800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:106349800-106353800	Weak transcription	HMEC	breast
14	chr12:106350000-106354200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:106350200-106354200	Weak transcription	HSMM	muscle
16	chr12:106350600-106353000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:106350600-106353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:106350600-106354000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:106350600-106354600	Weak transcription	Right Ventricle	heart
20	chr12:106350800-106353800	Weak transcription	Left Ventricle	heart
21	chr12:106350800-106354000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:106351600-106353600	Weak transcription	HSMMtube	muscle
23	chr12:106351600-106353800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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