Variant report

Variant	rs10849143
Chromosome Location	chr12:4881135-4881136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10047570	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10431361	0.92[ASN][1000 genomes]
rs10431362	0.90[ASN][1000 genomes]
rs10774267	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs10849125	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10849126	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849127	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849129	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849130	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849131	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10849133	0.89[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10849137	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10849138	0.83[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs10849139	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs11063314	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11063318	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11063327	0.89[ASN][1000 genomes]
rs11063328	0.88[ASN][1000 genomes]
rs11063331	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12296205	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12312983	0.82[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12320374	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12422704	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1468556	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2191157	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286578	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286580	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286581	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2286582	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2359466	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2359467	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3782740	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3782741	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3782742	0.96[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4765782	0.83[CHB][hapmap]
rs4766272	0.81[CHB][hapmap]
rs4766282	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs4766283	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs4766286	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6489558	0.85[CHB][hapmap]
rs6489560	0.81[CHB][hapmap]
rs6489565	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6489566	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6489567	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7132030	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7295230	0.89[ASN][1000 genomes]
rs7295251	0.89[ASN][1000 genomes]
rs7297290	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7305387	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7305525	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311675	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7311694	0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7314849	0.89[ASN][1000 genomes]
rs7315211	0.87[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs7316209	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953170	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953399	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs7953482	0.89[ASN][1000 genomes]
rs7966628	0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967117	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs7970126	0.85[ASN][1000 genomes]
rs7975978	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7976011	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7976219	0.99[ASN][1000 genomes]
rs929481	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9300304	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][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	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4869800-4884200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:4873200-4881800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:4873200-4889800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:4873400-4881200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:4873400-4889400	Weak transcription	Ovary	ovary
6	chr12:4875600-4881400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:4876600-4881400	Weak transcription	Brain Germinal Matrix	brain
8	chr12:4877000-4885800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:4878200-4885000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:4878600-4881600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:4880000-4881600	Enhancers	Left Ventricle	heart
12	chr12:4880200-4881400	Enhancers	Spleen	Spleen
13	chr12:4880200-4881600	Enhancers	Right Atrium	heart
14	chr12:4880400-4881600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:4880400-4881600	Enhancers	Right Ventricle	heart
16	chr12:4880600-4884200	Weak transcription	Lung	lung
17	chr12:4880800-4882000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:4880800-4884400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:4880800-4884800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:4881000-4881800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:4881000-4882000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr12:4881000-4882200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:4881000-4882800	Strong transcription	Fetal Brain Female	brain

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