Variant report

Variant	rs12091225
Chromosome Location	chr1:219986579-219986580
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	chr1:219834341..219835077-chr1:219985693..219986601,5	K562	blood:
2	chr1:219985709..219986669-chr1:220010832..220011687,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12091613	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17006690	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17006696	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17006699	0.80[AFR][1000 genomes]
rs7514630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529610	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:219983600-219987000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:219983800-219986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:219984200-219986600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:219985000-219986600	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr1:219985000-219986800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:219985000-219986800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:219985000-219987000	Enhancers	Brain Substantia Nigra	brain
8	chr1:219985200-219986800	Enhancers	Stomach Smooth Muscle	stomach
9	chr1:219985200-219987000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:219985400-219986600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:219985400-219986600	Enhancers	Fetal Heart	heart
12	chr1:219985400-219987200	Enhancers	Fetal Lung	lung
13	chr1:219985600-219986600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:219985600-219986800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:219985600-219987000	Enhancers	Brain Angular Gyrus	brain
16	chr1:219985600-219987000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:219985600-219987000	Enhancers	Colon Smooth Muscle	Colon
18	chr1:219985600-219987200	Enhancers	Ovary	ovary
19	chr1:219985600-219987400	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:219985600-219987400	Enhancers	Fetal Stomach	stomach
21	chr1:219985800-219986600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:219986000-219997200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:219986200-219986600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:219986200-219986800	Enhancers	Brain Hippocampus Middle	brain
25	chr1:219986200-219987200	Enhancers	Brain Anterior Caudate	brain
26	chr1:219986400-219986800	Weak transcription	Fetal Muscle Leg	muscle

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