Variant report

Variant	rs469982
Chromosome Location	chr22:29552155-29552156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29540159..29541896-chr22:29549831..29552578,2	MCF-7	breast:
2	chr22:29547025..29550393-chr22:29551126..29554117,6	K562	blood:
3	chr22:29194920..29197276-chr22:29549664..29552289,2	MCF-7	breast:
4	chr22:29468687..29470195-chr22:29550149..29552502,2	K562	blood:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000183762	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs132281	0.96[EUR][1000 genomes]
rs132283	0.93[EUR][1000 genomes]
rs132286	0.90[EUR][1000 genomes]
rs132289	1.00[AFR][1000 genomes]
rs132380	1.00[AFR][1000 genomes]
rs132386	1.00[AFR][1000 genomes]
rs469981	0.90[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	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29548800-29552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:29549400-29552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:29549400-29552800	Weak transcription	Ovary	ovary
4	chr22:29550400-29552400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:29550600-29552400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:29550600-29554200	Weak transcription	Thymus	Thymus
7	chr22:29550800-29552200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr22:29550800-29552400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:29550800-29552400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:29550800-29553400	Weak transcription	Esophagus	oesophagus
11	chr22:29550800-29554000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:29550800-29554200	Weak transcription	Fetal Intestine Small	intestine
13	chr22:29551000-29552200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:29551000-29552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:29551000-29552200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:29551000-29552200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:29551000-29552200	Weak transcription	Fetal Lung	lung
18	chr22:29551000-29552200	Weak transcription	Fetal Muscle Leg	muscle
19	chr22:29551000-29552400	Weak transcription	GM12878-XiMat	blood
20	chr22:29551000-29553200	Weak transcription	Fetal Intestine Large	intestine
21	chr22:29551000-29554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:29551000-29554200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:29551000-29554200	Weak transcription	HepG2	liver
24	chr22:29551200-29552400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:29551200-29561400	Weak transcription	Dnd41	blood
26	chr22:29552000-29552200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:29552000-29552200	Enhancers	Brain Hippocampus Middle	brain
28	chr22:29552000-29552200	Enhancers	Fetal Brain Female	brain
29	chr22:29552000-29553000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29552000-29553000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr22:29552000-29553200	Enhancers	Fetal Stomach	stomach

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