Variant report

Variant	rs2032769
Chromosome Location	chr12:106360868-106360869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106358492..106362174-chr12:106362759..106365345,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10082945	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10507207	0.88[ASN][1000 genomes]
rs10861535	0.97[ASN][1000 genomes]
rs10861536	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112823	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611601	0.89[ASN][1000 genomes]
rs12426791	0.88[ASN][1000 genomes]
rs12812572	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820331	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362980	0.88[ASN][1000 genomes]
rs1362981	0.88[ASN][1000 genomes]
rs35819527	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312161	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4497504	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4592505	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7300069	0.85[ASN][1000 genomes]
rs7973846	0.88[ASN][1000 genomes]
rs7976523	0.85[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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106356000-106376000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:106356200-106361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:106356600-106364000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:106356800-106363200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:106359200-106363800	Enhancers	Fetal Heart	heart
6	chr12:106359800-106362000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:106360000-106361000	Enhancers	Right Atrium	heart
8	chr12:106360000-106361800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr12:106360400-106361000	Enhancers	Aorta	Aorta
10	chr12:106360400-106361200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:106360400-106362000	Enhancers	HSMM	muscle
12	chr12:106360400-106362200	Enhancers	HSMMtube	muscle
13	chr12:106360600-106361000	Enhancers	Left Ventricle	heart
14	chr12:106360600-106361000	Enhancers	Lung	lung
15	chr12:106360600-106361000	Enhancers	Psoas Muscle	Psoas
16	chr12:106360600-106361200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:106360600-106361200	Enhancers	Fetal Muscle Leg	muscle
18	chr12:106360600-106361200	Enhancers	Ovary	ovary
19	chr12:106360600-106361800	Enhancers	HUVEC	blood vessel
20	chr12:106360800-106361000	Enhancers	Right Ventricle	heart
21	chr12:106360800-106361200	Enhancers	Fetal Muscle Trunk	muscle
22	chr12:106360800-106361200	Enhancers	Fetal Stomach	stomach
23	chr12:106360800-106361200	Enhancers	Osteobl	bone
24	chr12:106360800-106361600	Enhancers	Adipose Nuclei	Adipose
25	chr12:106360800-106361800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:106360800-106361800	Enhancers	NH-A	brain
27	chr12:106360800-106362200	Enhancers	Rectal Smooth Muscle	rectum

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