Variant report

Variant	rs4669592
Chromosome Location	chr2:10691170-10691171
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:
2	chr2:10578009..10580589-chr2:10689123..10691393,2	K562	blood:
3	chr2:10586791..10590396-chr2:10688660..10691536,3	K562	blood:
4	chr2:10586888..10589074-chr2:10691041..10693850,2	K562	blood:

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13024441	0.81[EUR][1000 genomes]
rs34668084	0.81[EUR][1000 genomes]
rs35431817	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35875315	0.80[ASN][1000 genomes]
rs736725	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs9678349	0.81[EUR][1000 genomes]
rs9678350	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv873654	chr2:10655141-10698364	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv873661	chr2:10675549-10703476	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv525241	chr2:10684391-10703476	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10687200-10691400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr2:10688000-10691800	Enhancers	Spleen	Spleen
3	chr2:10688200-10708800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:10688400-10692200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:10688600-10691200	Enhancers	HUVEC	blood vessel
6	chr2:10689200-10691200	Enhancers	Left Ventricle	heart
7	chr2:10689200-10691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:10689200-10710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:10689800-10691400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:10689800-10692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:10689800-10701800	Weak transcription	Pancreas	Pancrea
12	chr2:10690000-10691800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:10690000-10692000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:10690400-10691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:10690400-10692600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:10690600-10691200	Enhancers	Right Atrium	heart
17	chr2:10690600-10691800	Weak transcription	Lung	lung
18	chr2:10690600-10692800	Enhancers	Fetal Muscle Leg	muscle
19	chr2:10690800-10698800	Weak transcription	Fetal Brain Female	brain
20	chr2:10691000-10691200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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