Variant report

Variant	rs73882498
Chromosome Location	chr22:29602919-29602920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29602636..29604550-chr22:29611942..29613555,2	K562	blood:
2	chr22:29601873..29603950-chr22:29609240..29612185,2	MCF-7	breast:
3	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:

Variant related genes	Relation type
ENSG00000186998	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57917359	0.82[AFR][1000 genomes]
rs59622409	0.87[AFR][1000 genomes]
rs60846306	0.97[AFR][1000 genomes]
rs73882491	0.94[AFR][1000 genomes]
rs73882494	1.00[AFR][1000 genomes]
rs73882497	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3344633	chr22:29601102-29603000	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29600800-29603000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr22:29601000-29603400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr22:29601200-29603400	Active TSS	Fetal Kidney	kidney
5	chr22:29601200-29603400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr22:29601400-29603000	Active TSS	Brain Anterior Caudate	brain
7	chr22:29601400-29603200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr22:29601400-29603200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr22:29601400-29603200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr22:29601400-29603600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr22:29601600-29603000	Active TSS	Fetal Intestine Small	intestine
12	chr22:29601600-29603600	Active TSS	Fetal Intestine Large	intestine
13	chr22:29601800-29603400	Active TSS	GM12878-XiMat	blood
14	chr22:29602000-29603000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:29602000-29603000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:29602200-29603000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr22:29602200-29603000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr22:29602200-29603400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:29602200-29603600	Flanking Active TSS	Dnd41	blood
20	chr22:29602200-29605800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr22:29602400-29603000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:29602400-29603000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:29602400-29603000	Bivalent/Poised TSS	Colonic Mucosa	Colon
24	chr22:29602400-29603400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:29602400-29603400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr22:29602400-29605200	Weak transcription	Gastric	stomach
27	chr22:29602400-29605800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr22:29602400-29606200	Flanking Active TSS	Fetal Brain Female	brain
29	chr22:29602600-29603000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr22:29602600-29603000	Enhancers	Liver	Liver
31	chr22:29602600-29603000	Active TSS	Brain Cingulate Gyrus	brain
32	chr22:29602600-29603000	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr22:29602600-29603000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
34	chr22:29602600-29603000	Flanking Active TSS	K562	blood
35	chr22:29602600-29603200	Active TSS	Brain Hippocampus Middle	brain
36	chr22:29602600-29603200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr22:29602600-29603400	Active TSS	Brain Germinal Matrix	brain
38	chr22:29602600-29603400	Flanking Active TSS	Fetal Lung	lung
39	chr22:29602600-29603600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:29602600-29603800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr22:29602800-29603000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr22:29602800-29603000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr22:29602800-29603000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29602800-29603000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:29602800-29603000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr22:29602800-29603000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr22:29602800-29603000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr22:29602800-29603000	Flanking Active TSS	Fetal Stomach	stomach
49	chr22:29602800-29603000	Enhancers	Fetal Thymus	thymus
50	chr22:29602800-29603200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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