Variant report

Variant	rs11063202
Chromosome Location	chr12:4593690-4593691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1029769	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10444478	0.90[ASN][1000 genomes]
rs10849083	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849085	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849086	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849087	0.91[ASN][1000 genomes]
rs10849089	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849090	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849091	0.83[ASN][1000 genomes]
rs11063177	0.87[EUR][1000 genomes]
rs11063179	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063181	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063182	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11063187	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063189	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11063191	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11063193	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063194	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063196	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063197	1.00[ASN][1000 genomes]
rs11063198	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11063199	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063206	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063207	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063213	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063214	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063215	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063217	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063220	0.83[ASN][1000 genomes]
rs11063227	0.91[ASN][1000 genomes]
rs11063228	0.91[ASN][1000 genomes]
rs11063230	0.81[ASN][1000 genomes]
rs12314323	0.91[ASN][1000 genomes]
rs12366731	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367035	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907492	0.91[ASN][1000 genomes]
rs2907494	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907495	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907498	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2907499	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909380	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909381	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970808	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970810	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970812	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970818	1.00[ASN][1000 genomes]
rs4238020	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4323977	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60388479	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61909580	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459910	0.81[ASN][1000 genomes]
rs73037770	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304949	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308641	0.91[ASN][1000 genomes]
rs7314915	0.91[ASN][1000 genomes]
rs7965755	0.91[ASN][1000 genomes]
rs7972086	0.91[ASN][1000 genomes]
rs9971700	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971728	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4586800-4596400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:4587200-4597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:4587200-4597200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:4590000-4596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:4590200-4597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:4591800-4594800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:4591800-4596200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:4592000-4594800	Enhancers	HMEC	breast
10	chr12:4592000-4595000	Enhancers	NHEK	skin
11	chr12:4592200-4594800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:4592200-4594800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:4592200-4594800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr12:4592400-4596400	Weak transcription	Spleen	Spleen
15	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus
16	chr12:4592600-4594400	Weak transcription	HepG2	liver
17	chr12:4592600-4595600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:4592600-4596200	Weak transcription	Left Ventricle	heart
19	chr12:4592600-4597400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:4592600-4607800	Weak transcription	Aorta	Aorta
21	chr12:4592800-4594800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:4593200-4594000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr12:4593400-4594800	Enhancers	Psoas Muscle	Psoas
24	chr12:4593400-4597200	Weak transcription	HUVEC	blood vessel
25	chr12:4593400-4628600	Weak transcription	Right Ventricle	heart
26	chr12:4593600-4596200	Weak transcription	HSMM	muscle
27	chr12:4593600-4597200	Weak transcription	Primary T cells from cord blood	blood
28	chr12:4593600-4597200	Weak transcription	Liver	Liver
29	chr12:4593600-4597400	Weak transcription	Fetal Thymus	thymus

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