Variant report

Variant	rs4487069
Chromosome Location	chr2:11689663-11689664
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11682344..11684580-chr2:11686447..11690494,3	K562	blood:

Variant related genes	Relation type
ENSG00000196208	Chromatin interaction

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

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

rs_ID	r²[population]
rs6710534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718650	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs6728463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745409	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs9784026	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs9784028	0.89[CEU][hapmap];0.88[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1814335	chr2:11689048-11718858	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11683200-11690400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:11683200-11690600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:11683200-11690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:11683400-11697800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:11684000-11690400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:11684400-11690400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:11684800-11693800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:11685000-11690400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:11685400-11693800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:11685600-11690600	Genic enhancers	HepG2	liver
12	chr2:11685600-11692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:11687000-11694600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:11688600-11693800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11688600-11696400	Weak transcription	Pancreas	Pancrea
16	chr2:11689000-11690400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:11689000-11692600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:11689200-11689800	Weak transcription	Ovary	ovary
19	chr2:11689200-11691600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:11689600-11689800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:11689600-11690000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:11689600-11692800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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