Variant report

Variant	rs73882438
Chromosome Location	chr22:29427341-29427342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29194663..29197354-chr22:29426484..29429608,3	K562	blood:
2	chr11:116658585..116659254-chr22:29427045..29427582,2	HCT-116	colon:
3	chr22:29193926..29196590-chr22:29426887..29431178,4	K562	blood:
4	chr22:29275977..29281461-chr22:29425203..29430435,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction
ENSG00000109917	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction

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

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

rs_ID	r²[population]
rs16986908	1.00[ASN][1000 genomes]
rs16986912	1.00[ASN][1000 genomes]
rs16986925	1.00[ASN][1000 genomes]
rs16986971	1.00[ASN][1000 genomes]
rs16986990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997413	1.00[ASN][1000 genomes]
rs7292372	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137391	1.00[EUR][1000 genomes];1.00[ASN][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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29420600-29427800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29425200-29427400	Weak transcription	Gastric	stomach
3	chr22:29425800-29427600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29425800-29428800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29425800-29429000	Enhancers	Fetal Heart	heart
6	chr22:29426000-29427600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr22:29426000-29427600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr22:29426000-29428600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:29426000-29428800	Bivalent Enhancer	Fetal Thymus	thymus
10	chr22:29426000-29429000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29426000-29429000	Enhancers	Stomach Mucosa	stomach
12	chr22:29426200-29427400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr22:29426200-29427400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:29426200-29427400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr22:29426200-29428200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:29426400-29428000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:29426400-29430000	Enhancers	Lung	lung
18	chr22:29426600-29427400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr22:29426600-29427400	Weak transcription	Fetal Kidney	kidney
20	chr22:29426600-29427600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr22:29426600-29427800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:29426600-29427800	Weak transcription	Brain Angular Gyrus	brain
23	chr22:29426800-29427400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr22:29426800-29427400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:29426800-29427400	Enhancers	Fetal Brain Male	brain
26	chr22:29426800-29428000	Flanking Active TSS	HMEC	breast
27	chr22:29426800-29428800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr22:29426800-29429000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr22:29426800-29429000	Enhancers	Brain Cingulate Gyrus	brain
30	chr22:29426800-29430000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:29427000-29427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:29427000-29427400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr22:29427000-29427400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:29427000-29427400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:29427000-29427400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr22:29427000-29427400	Flanking Active TSS	K562	blood
37	chr22:29427000-29427400	Flanking Active TSS	NHEK	skin
38	chr22:29427000-29427600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
39	chr22:29427000-29427800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:29427000-29427800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:29427000-29427800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:29427000-29427800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr22:29427000-29427800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr22:29427000-29427800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr22:29427000-29427800	Flanking Active TSS	HepG2	liver
46	chr22:29427000-29428000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr22:29427000-29428000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr22:29427000-29428000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr22:29427000-29428000	Enhancers	Primary hematopoietic stem cells	blood
50	chr22:29427000-29428000	Enhancers	Sigmoid Colon	Sigmoid Colon

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