Variant report

Variant	rs11914139
Chromosome Location	chr22:33458380-33458381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000251890	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11704339	0.83[AFR][1000 genomes]
rs13053449	0.83[AFR][1000 genomes]
rs13057082	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13057573	0.83[AFR][1000 genomes]
rs13057853	0.84[EUR][1000 genomes]
rs739144	0.80[EUR][1000 genomes]
rs9621624	0.80[EUR][1000 genomes]
rs9621626	0.80[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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33454400-33458400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:33454800-33459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:33454800-33465000	Weak transcription	Fetal Brain Female	brain
4	chr22:33457200-33460000	Enhancers	H9 Cell Line	embryonic stem cell
5	chr22:33457200-33460000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr22:33457200-33460000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr22:33457600-33458400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr22:33457600-33461000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr22:33457800-33460200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:33458000-33458400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr22:33458000-33458600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr22:33458000-33459000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr22:33458000-33459800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr22:33458000-33459800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:33458200-33458400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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