Variant report

Variant	rs57914628
Chromosome Location	chr12:83439962-83439963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83415930..83418702-chr12:83439696..83442546,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10466961	0.99[ASN][1000 genomes]
rs11115560	1.00[ASN][1000 genomes]
rs17010561	0.96[ASN][1000 genomes]
rs60173644	0.99[ASN][1000 genomes]
rs7962040	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83419000-83468000	Weak transcription	Fetal Stomach	stomach
2	chr12:83423600-83446200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:83423600-83448800	Weak transcription	Brain Substantia Nigra	brain
4	chr12:83425400-83440600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:83428600-83443000	Weak transcription	Fetal Lung	lung
6	chr12:83434400-83440400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:83434400-83452200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:83436600-83452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:83436800-83467800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:83437000-83443000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:83437200-83442800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:83437200-83444600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:83437200-83454400	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:83437200-83467800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:83437800-83443000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:83438600-83462400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:83438800-83452200	Weak transcription	Fetal Intestine Large	intestine
18	chr12:83439600-83440000	Enhancers	Fetal Muscle Leg	muscle
19	chr12:83439600-83440400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:83439800-83440400	Strong transcription	Monocytes-CD14+_RO01746	blood

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