Variant report

Variant	rs17044111
Chromosome Location	chr2:53331620-53331621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12477365	0.97[AMR][1000 genomes]
rs12478233	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs1838825	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60943259	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6752368	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1012463	chr2:53187151-53377118	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	nsv874141	chr2:53263644-53352630	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv1011118	chr2:53328397-53375220	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53330200-53331800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:53330200-53332000	Enhancers	HepG2	liver
3	chr2:53330200-53332200	Enhancers	Hela-S3	cervix
4	chr2:53330600-53332200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr2:53330600-53332200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:53330600-53332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:53330600-53332400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:53330600-53332400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:53330600-53332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:53330800-53332200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:53330800-53332200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:53330800-53332400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:53331000-53331800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:53331000-53332200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:53331000-53332400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:53331000-53332400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:53331000-53332400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:53331200-53331800	Enhancers	NHEK	skin
19	chr2:53331400-53332000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:53331400-53332200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:53331400-53332200	Enhancers	HSMMtube	muscle
22	chr2:53331400-53332400	Enhancers	HMEC	breast
23	chr2:53331600-53332200	Enhancers	A549	lung
24	chr2:53331600-53332400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:53331600-53337400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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