Variant report

Variant	rs136224
Chromosome Location	chr22:31219193-31219194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31218130..31220095-chr22:31317473..31320044,2	MCF-7	breast:
2	chr11:65189805..65190777-chr22:31218762..31219533,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000235989	Chromatin interaction
ENSG00000245532	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs136223	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2107401	0.81[ASN][1000 genomes]
rs5753338	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753339	0.91[ASN][1000 genomes]
rs738372	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8139392	0.87[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31217400-31219400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr22:31217800-31219400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr22:31218000-31219200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr22:31218000-31219200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr22:31218000-31219200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr22:31218000-31219200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:31218000-31219200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:31218000-31219200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:31218000-31219200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:31218000-31219200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr22:31218200-31219200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr22:31218200-31219200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:31218200-31219200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr22:31218200-31219200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr22:31218200-31219200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:31218400-31219200	Active TSS	Hela-S3	cervix
17	chr22:31218600-31219200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:31218600-31219200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:31218600-31219200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
20	chr22:31218800-31219200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:31218800-31219200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr22:31218800-31219200	Active TSS	Brain Cingulate Gyrus	brain
23	chr22:31218800-31219200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr22:31218800-31219200	Enhancers	Brain Substantia Nigra	brain
25	chr22:31218800-31219400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr22:31218800-31220000	Enhancers	NHEK	skin
27	chr22:31218800-31222400	Weak transcription	A549	lung
28	chr22:31219000-31219200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr22:31219000-31219200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:31219000-31219200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:31219000-31219200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:31219000-31219200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:31219000-31219200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr22:31219000-31219200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr22:31219000-31219200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:31219000-31219200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr22:31219000-31219200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:31219000-31219200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr22:31219000-31219200	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr22:31219000-31219200	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr22:31219000-31219200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr22:31219000-31219200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:31219000-31219200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr22:31219000-31219200	Enhancers	Gastric	stomach
45	chr22:31219000-31219200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
46	chr22:31219000-31219200	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr22:31219000-31219200	Enhancers	HMEC	breast
48	chr22:31219000-31219200	Bivalent/Poised TSS	NH-A	brain
49	chr22:31219000-31219200	Flanking Bivalent TSS/Enh	Osteobl	bone
50	chr22:31219000-31219400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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