Variant report

Variant	rs71278252
Chromosome Location	chr12:64543947-64543948
allele	CCACCCTCCCAT/GCACCCTCCCAC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10784382	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10784383	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10878108	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878109	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2669626	0.81[ASN][1000 genomes]
rs7964633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7965130	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64531600-64554400	Weak transcription	NH-A	brain
2	chr12:64537000-64545600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:64537200-64546400	Weak transcription	Stomach Mucosa	stomach
4	chr12:64537400-64544600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:64537800-64547600	Weak transcription	Hela-S3	cervix
6	chr12:64537800-64551000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:64538000-64544800	Weak transcription	Adipose Nuclei	Adipose
8	chr12:64538000-64545000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:64538000-64553400	Weak transcription	HMEC	breast
10	chr12:64539400-64544600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:64539600-64544800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:64539600-64544800	Weak transcription	Fetal Stomach	stomach
13	chr12:64540000-64553400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:64540000-64553400	Weak transcription	NHEK	skin
15	chr12:64540400-64553400	Weak transcription	Osteobl	bone
16	chr12:64540400-64553800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:64540400-64558800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:64540600-64546000	Weak transcription	Fetal Brain Female	brain
19	chr12:64541400-64545200	Weak transcription	Lung	lung
20	chr12:64541400-64545600	Weak transcription	Fetal Brain Male	brain
21	chr12:64541400-64550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:64541400-64554400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:64542400-64546400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:64542400-64553800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:64542600-64544200	Strong transcription	NHLF	lung
26	chr12:64542600-64544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:64543200-64544200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:64543200-64544400	Enhancers	Ovary	ovary
29	chr12:64543200-64546200	Weak transcription	NHDF-Ad	bronchial
30	chr12:64543200-64553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:64543400-64547400	Weak transcription	HSMMtube	muscle
32	chr12:64543600-64545800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:64543600-64546200	Weak transcription	A549	lung
34	chr12:64543600-64554000	Weak transcription	HSMM	muscle
35	chr12:64543800-64553400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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