Variant report

Variant	rs73388889
Chromosome Location	chr22:29300432-29300433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29300330..29301972-chr22:29304300..29306887,2	K562	blood:
2	chr22:29195884..29197508-chr22:29298766..29301210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56662554	1.00[AMR][1000 genomes]
rs58174942	1.00[AMR][1000 genomes]
rs59677997	1.00[AMR][1000 genomes]
rs61162472	1.00[AMR][1000 genomes]
rs61262861	1.00[AMR][1000 genomes]
rs7286589	1.00[AMR][1000 genomes]
rs73388832	1.00[AMR][1000 genomes]
rs73388848	1.00[AMR][1000 genomes]
rs73390897	1.00[AMR][1000 genomes]
rs73393032	1.00[AMR][1000 genomes]
rs73393045	1.00[AMR][1000 genomes]
rs73395867	1.00[AMR][1000 genomes]
rs73397795	1.00[AMR][1000 genomes]
rs73397802	1.00[AMR][1000 genomes]
rs73399604	1.00[AMR][1000 genomes]
rs73399643	1.00[AMR][1000 genomes]
rs73403430	1.00[AMR][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	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	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29288000-29301800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29291200-29300600	Weak transcription	Psoas Muscle	Psoas
3	chr22:29292400-29300600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr22:29295600-29300600	Weak transcription	Brain Substantia Nigra	brain
5	chr22:29296800-29310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:29297400-29300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:29298200-29301000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:29298400-29301200	Enhancers	Adipose Nuclei	Adipose
9	chr22:29298400-29301200	Enhancers	Fetal Muscle Leg	muscle
10	chr22:29298400-29301400	Enhancers	Right Ventricle	heart
11	chr22:29298400-29302800	Enhancers	Liver	Liver
12	chr22:29298400-29308400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:29298400-29310400	Enhancers	Fetal Intestine Large	intestine
14	chr22:29298600-29300800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr22:29298600-29300800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr22:29298600-29300800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr22:29298600-29301000	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:29298600-29301200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:29298600-29302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr22:29298600-29302400	Enhancers	Placenta	Placenta
21	chr22:29298600-29302600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:29298600-29302600	Enhancers	Fetal Lung	lung
23	chr22:29298600-29302800	Enhancers	Fetal Kidney	kidney
24	chr22:29298600-29304600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:29298600-29305000	Enhancers	Brain Anterior Caudate	brain
26	chr22:29298600-29305400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:29298800-29301000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:29298800-29301200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:29298800-29301200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:29298800-29301200	Enhancers	Fetal Heart	heart
31	chr22:29298800-29302000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:29298800-29302800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr22:29298800-29302800	Enhancers	Rectal Smooth Muscle	rectum
34	chr22:29298800-29304400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr22:29298800-29305200	Enhancers	Brain Cingulate Gyrus	brain
36	chr22:29299000-29300600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr22:29299000-29300800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:29299000-29300800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr22:29299000-29301000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:29299000-29301200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:29299000-29301200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr22:29299000-29301200	Enhancers	Left Ventricle	heart
43	chr22:29299000-29301400	Enhancers	Fetal Stomach	stomach
44	chr22:29299000-29301400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr22:29299000-29301600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr22:29299000-29301600	Enhancers	Aorta	Aorta
47	chr22:29299000-29301800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr22:29299000-29302800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr22:29299000-29302800	Enhancers	Ovary	ovary
50	chr22:29299000-29303000	Enhancers	Skeletal Muscle Female	skeletal muscle

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