Variant report

Variant	rs12627935
Chromosome Location	chr22:29596503-29596504
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	chr22:29588962..29590714-chr22:29595745..29598495,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10427585	0.82[AMR][1000 genomes]
rs11090561	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12484227	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12484888	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12484912	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12484942	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12628053	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12628113	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12628212	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12628310	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12628475	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16987237	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35405773	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55676901	0.84[EUR][1000 genomes]
rs56132535	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59125412	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60307207	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67133001	1.00[ASN][1000 genomes]
rs73399031	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73882489	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73882490	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73882499	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8138012	0.90[ASN][1000 genomes]
rs8141926	0.90[ASN][1000 genomes]
rs8142082	0.90[ASN][1000 genomes]
rs8142429	0.90[ASN][1000 genomes]
rs916341	0.90[ASN][1000 genomes]
rs916342	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][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	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	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
2	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
3	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine
4	chr22:29592000-29597800	Weak transcription	Fetal Lung	lung
5	chr22:29592200-29597000	Weak transcription	Fetal Thymus	thymus
6	chr22:29592200-29598000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:29592400-29597000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:29592400-29598000	Weak transcription	Left Ventricle	heart
9	chr22:29592400-29598200	Weak transcription	Lung	lung
10	chr22:29592600-29597600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29593400-29597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:29593600-29597200	Weak transcription	K562	blood
13	chr22:29594000-29598000	Weak transcription	Small Intestine	intestine
14	chr22:29594800-29600800	Weak transcription	Pancreas	Pancrea
15	chr22:29595400-29597600	Enhancers	GM12878-XiMat	blood
16	chr22:29595600-29597200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:29595600-29597600	Genic enhancers	Dnd41	blood
18	chr22:29595800-29596600	Strong transcription	Fetal Intestine Small	intestine
19	chr22:29595800-29597200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:29596200-29597200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr22:29596400-29601600	Enhancers	Spleen	Spleen

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