Variant report

Variant	rs738724
Chromosome Location	chr22:28985326-28985327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12628675	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762568	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5762632	0.91[EUR][1000 genomes]
rs5762634	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs5762713	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762733	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762734	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72617288	0.80[AFR][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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28956800-28993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr22:28967800-28991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28967800-28997600	Weak transcription	HepG2	liver
4	chr22:28979200-28991400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:28979200-28993600	Weak transcription	Fetal Stomach	stomach
6	chr22:28979600-28990400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:28980000-28990600	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:28980400-28990600	Weak transcription	NHLF	lung
9	chr22:28980600-28985600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr22:28981400-28989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:28981600-28990400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:28984600-28985400	Enhancers	A549	lung
13	chr22:28984800-28985600	Enhancers	Dnd41	blood
14	chr22:28984800-28985600	Enhancers	K562	blood
15	chr22:28985000-28985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:28985200-28985600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:28985200-28985600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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