Variant report

Variant	rs56728146
Chromosome Location	chr22:29343873-29343874
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	chr22:29343042..29345424-chr22:29425071..29426674,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11912894	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11913224	1.00[AMR][1000 genomes]
rs11913805	1.00[AMR][1000 genomes]
rs59546292	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6005942	1.00[AMR][1000 genomes]
rs73881187	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881189	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881200	1.00[AMR][1000 genomes]
rs73881201	1.00[AMR][1000 genomes]

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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29333800-29347800	Weak transcription	Gastric	stomach
3	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:29338600-29347600	Weak transcription	Left Ventricle	heart
6	chr22:29339600-29345400	Weak transcription	Lung	lung
7	chr22:29339600-29345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:29339600-29346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:29339600-29347600	Weak transcription	Pancreas	Pancrea
10	chr22:29339800-29347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:29339800-29352600	Weak transcription	Stomach Mucosa	stomach
12	chr22:29340000-29345600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr22:29340000-29345800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr22:29340000-29349200	Weak transcription	Aorta	Aorta
15	chr22:29340400-29345600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:29342000-29344600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29342400-29344400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:29342400-29344400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:29342600-29344000	ZNF genes & repeats	Fetal Intestine Large	intestine
20	chr22:29343000-29345600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr22:29343000-29346000	Enhancers	HepG2	liver
22	chr22:29343000-29346200	Weak transcription	Small Intestine	intestine
23	chr22:29343000-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:29343400-29345600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:29343400-29346200	Weak transcription	Brain Substantia Nigra	brain
26	chr22:29343600-29344600	Weak transcription	Fetal Kidney	kidney
27	chr22:29343600-29346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr22:29343600-29346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:29343600-29346400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:29343600-29346600	Weak transcription	Brain Angular Gyrus	brain
31	chr22:29343800-29345400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:29343800-29345400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:29343800-29346400	Weak transcription	Fetal Brain Male	brain
34	chr22:29343800-29347600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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