Variant report

Variant	rs5754317
Chromosome Location	chr22:33267235-33267236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs5749526	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5749530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754319	1.00[CHB][hapmap]
rs5754320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754321	1.00[CHB][hapmap]
rs5754322	1.00[CHB][hapmap]
rs5998584	1.00[CHB][hapmap]
rs5998585	1.00[CHB][hapmap]
rs5998588	1.00[CHB][hapmap]
rs5998589	1.00[CHB][hapmap]
rs5998590	1.00[CHB][hapmap]

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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1059368	chr22:33249121-33268782	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
3	chr22:33256400-33269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr22:33257800-33269600	Weak transcription	Fetal Intestine Small	intestine
5	chr22:33257800-33270000	Weak transcription	Fetal Intestine Large	intestine
6	chr22:33257800-33282000	Weak transcription	HepG2	liver
7	chr22:33259000-33270800	Weak transcription	Fetal Lung	lung
8	chr22:33259400-33270200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr22:33261200-33270400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:33263200-33268600	Weak transcription	K562	blood
11	chr22:33265200-33269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:33265200-33282000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:33265600-33287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:33267200-33267400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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