Variant report

Variant	rs7926248
Chromosome Location	chr11:121838178-121838179
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	chr11:121815543..121818136-chr11:121836975..121839770,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12797683	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73018001	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73019903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73019904	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73019905	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934853	0.94[AMR][1000 genomes];1.00[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	nsv556478	chr11:121816920-121840829	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv898429	chr11:121833245-121897762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121833600-121840400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:121835200-121839600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:121836000-121840200	Weak transcription	HSMMtube	muscle
4	chr11:121837200-121839800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:121837400-121838200	Enhancers	Brain Angular Gyrus	brain
6	chr11:121837400-121838600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:121837400-121838600	Enhancers	Brain Cingulate Gyrus	brain
8	chr11:121837600-121838200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:121837600-121838200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:121837600-121838200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:121837600-121838400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:121837600-121838400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:121837600-121838600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:121837600-121838600	Enhancers	Brain Germinal Matrix	brain
15	chr11:121837800-121838200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr11:121837800-121838400	Active TSS	Brain Anterior Caudate	brain
17	chr11:121837800-121838600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:121837800-121839200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:121838000-121838400	Active TSS	Brain Substantia Nigra	brain
20	chr11:121838000-121838600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:121838000-121838600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:121838000-121838600	Active TSS	Brain Hippocampus Middle	brain

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