Variant report

Variant	rs8138697
Chromosome Location	chr22:29580484-29580485
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	chr22:29579157..29580861-chr22:29584345..29586693,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13057033	1.00[EUR][1000 genomes]
rs71327339	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9620870	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][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	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	esv3418371	chr22:29569447-29595319	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29572800-29591000	Weak transcription	Spleen	Spleen
2	chr22:29576400-29591000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:29576600-29583800	Weak transcription	Fetal Lung	lung
4	chr22:29576600-29590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:29576600-29591200	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29577600-29591200	Weak transcription	Dnd41	blood
7	chr22:29579200-29590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29579800-29580800	Enhancers	Brain Germinal Matrix	brain
9	chr22:29579800-29582600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr22:29580000-29580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:29580000-29581000	Enhancers	Brain Anterior Caudate	brain
12	chr22:29580000-29581400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr22:29580200-29580600	Flanking Active TSS	HepG2	liver
14	chr22:29580200-29581000	Enhancers	Fetal Muscle Trunk	muscle
15	chr22:29580200-29581200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:29580200-29581200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr22:29580200-29581200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:29580200-29581400	Enhancers	Brain Cingulate Gyrus	brain
19	chr22:29580200-29581400	Enhancers	Brain Hippocampus Middle	brain
20	chr22:29580200-29581400	Enhancers	Brain Substantia Nigra	brain
21	chr22:29580200-29581600	Enhancers	Fetal Brain Male	brain
22	chr22:29580200-29581600	Enhancers	Fetal Muscle Leg	muscle
23	chr22:29580400-29581000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:29580400-29581200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr22:29580400-29581200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr22:29580400-29581200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:29580400-29581200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr22:29580400-29581200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr22:29580400-29581200	Enhancers	Brain Angular Gyrus	brain
30	chr22:29580400-29581400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:29580400-29581600	Enhancers	Fetal Brain Female	brain

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