Variant report

Variant	rs469985
Chromosome Location	chr22:29581296-29581297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29568099..29570164-chr22:29580490..29582508,2	K562	blood:
2	chr22:29567775..29570590-chr22:29581265..29582805,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs132308	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132311	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs132312	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132313	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs132314	0.82[EUR][1000 genomes]
rs132315	0.82[EUR][1000 genomes]
rs132316	0.82[EUR][1000 genomes]
rs132317	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132321	0.82[EUR][1000 genomes]
rs132323	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132341	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132348	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs132350	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs132351	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs132354	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs132363	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs132366	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs132367	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs132370	0.94[EUR][1000 genomes]
rs132373	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs132378	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs132380	0.89[EUR][1000 genomes]
rs4380342	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs469984	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs713924	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3418371	chr22:29569447-29595319	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29572800-29591000	Weak transcription	Spleen	Spleen
2	chr22:29576400-29591000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:29576600-29583800	Weak transcription	Fetal Lung	lung
4	chr22:29576600-29590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:29576600-29591200	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29577600-29591200	Weak transcription	Dnd41	blood
7	chr22:29579200-29590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29579800-29582600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr22:29580000-29581400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr22:29580200-29581400	Enhancers	Brain Cingulate Gyrus	brain
11	chr22:29580200-29581400	Enhancers	Brain Hippocampus Middle	brain
12	chr22:29580200-29581400	Enhancers	Brain Substantia Nigra	brain
13	chr22:29580200-29581600	Enhancers	Fetal Brain Male	brain
14	chr22:29580200-29581600	Enhancers	Fetal Muscle Leg	muscle
15	chr22:29580400-29581400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:29580400-29581600	Enhancers	Fetal Brain Female	brain
17	chr22:29580600-29591000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr22:29580800-29581400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr22:29581000-29581600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr22:29581000-29584000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:29581200-29581400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29581200-29581400	Enhancers	Brain Anterior Caudate	brain
23	chr22:29581200-29581400	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr22:29581200-29591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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