Variant report

Variant	rs929481
Chromosome Location	chr12:4877155-4877156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10047570	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10160902	0.84[ASN][1000 genomes]
rs10431361	0.99[ASN][1000 genomes]
rs10431362	0.96[ASN][1000 genomes]
rs10774267	0.99[ASN][1000 genomes]
rs10849125	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849126	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849127	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849128	0.82[ASN][1000 genomes]
rs10849129	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849130	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849131	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10849133	0.91[ASN][1000 genomes]
rs10849137	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849138	0.95[ASN][1000 genomes]
rs10849143	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11063314	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11063318	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11063327	0.95[ASN][1000 genomes]
rs11063328	0.94[ASN][1000 genomes]
rs11063331	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12296205	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12312983	0.89[EUR][1000 genomes]
rs12320374	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12422704	0.84[EUR][1000 genomes]
rs1468556	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17783373	0.84[ASN][1000 genomes]
rs2109099	0.83[ASN][1000 genomes]
rs2109100	0.83[ASN][1000 genomes]
rs2159354	0.85[ASN][1000 genomes]
rs2159355	0.85[ASN][1000 genomes]
rs2191157	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286578	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2286580	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286581	0.92[ASN][1000 genomes]
rs2286582	0.92[ASN][1000 genomes]
rs2359466	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2359467	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35049745	0.84[ASN][1000 genomes]
rs3782740	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3782741	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3782742	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4765779	0.84[ASN][1000 genomes]
rs4765780	0.81[ASN][1000 genomes]
rs4765781	0.83[ASN][1000 genomes]
rs4765782	0.86[ASN][1000 genomes]
rs4766276	0.84[ASN][1000 genomes]
rs4766278	0.84[ASN][1000 genomes]
rs4766279	0.84[ASN][1000 genomes]
rs4766280	0.84[ASN][1000 genomes]
rs4766281	0.84[ASN][1000 genomes]
rs4766282	0.88[ASN][1000 genomes]
rs4766283	0.87[ASN][1000 genomes]
rs4766286	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6489565	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489566	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489567	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7132030	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7137040	0.84[ASN][1000 genomes]
rs7137660	0.84[ASN][1000 genomes]
rs7295230	0.95[ASN][1000 genomes]
rs7295251	0.95[ASN][1000 genomes]
rs7297290	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7305387	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7305525	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7306235	0.84[ASN][1000 genomes]
rs7311475	0.84[ASN][1000 genomes]
rs7311675	0.95[ASN][1000 genomes]
rs7311694	0.95[ASN][1000 genomes]
rs7312119	0.84[ASN][1000 genomes]
rs7314849	0.95[ASN][1000 genomes]
rs7315211	0.95[ASN][1000 genomes]
rs7316209	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7953170	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7953399	0.95[ASN][1000 genomes]
rs7953482	0.95[ASN][1000 genomes]
rs7966628	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7967117	0.99[ASN][1000 genomes]
rs7970126	0.91[ASN][1000 genomes]
rs7972019	0.84[ASN][1000 genomes]
rs7975978	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976011	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7976219	0.92[ASN][1000 genomes]
rs9300304	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[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	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3332578	chr12:4874835-4877804	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4867200-4880200	Weak transcription	Spleen	Spleen
2	chr12:4869800-4884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:4871800-4877800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:4873200-4879800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:4873200-4881800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:4873200-4889800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:4873400-4881200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:4873400-4889400	Weak transcription	Ovary	ovary
9	chr12:4874600-4881000	Weak transcription	Fetal Brain Female	brain
10	chr12:4875000-4878200	Enhancers	Fetal Muscle Leg	muscle
11	chr12:4875600-4877800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:4875600-4879400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:4875600-4881400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:4876000-4877600	Weak transcription	Fetal Lung	lung
15	chr12:4876400-4878200	Weak transcription	Adipose Nuclei	Adipose
16	chr12:4876600-4877800	Weak transcription	Fetal Heart	heart
17	chr12:4876600-4878200	Weak transcription	Fetal Brain Male	brain
18	chr12:4876600-4880400	Weak transcription	Lung	lung
19	chr12:4876600-4881400	Weak transcription	Brain Germinal Matrix	brain
20	chr12:4876800-4877800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:4876800-4878000	Weak transcription	Right Ventricle	heart
22	chr12:4876800-4878200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:4876800-4878200	Weak transcription	Left Ventricle	heart
24	chr12:4876800-4878200	Weak transcription	Right Atrium	heart
25	chr12:4877000-4885800	Weak transcription	Brain Inferior Temporal Lobe	brain

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