Variant report

Variant	rs5754290
Chromosome Location	chr22:33192582-33192583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33055970..33056871-chr22:33192363..33193467,3	K562	blood:
2	22:32284948-32287956..22:33190123-33206921	K562	blood:
3	chr22:33055973..33057208-chr22:33192214..33193923,10	MCF-7	breast:
4	chr22:32924678..32925597-chr22:33192568..33193610,6	MCF-7	breast:
5	22:32846948-32860159..22:33190123-33206921	K562	blood:
6	chr22:32924784..32925720-chr22:33192064..33192767,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs135152	0.88[CHB][hapmap]
rs2234921	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242082	0.86[YRI][hapmap]
rs5754283	0.88[JPT][hapmap]
rs80268	0.88[CHB][hapmap];0.82[YRI][hapmap]
rs8137129	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619311	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr22:33177400-33192800	Weak transcription	Pancreas	Pancrea
3	chr22:33182000-33192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:33182600-33195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:33185200-33192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:33185200-33192600	Weak transcription	Right Atrium	heart
7	chr22:33185200-33192800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:33186000-33192600	Weak transcription	HSMM	muscle
10	chr22:33187600-33192800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr22:33189800-33193400	Enhancers	Fetal Muscle Leg	muscle
12	chr22:33189800-33193400	Enhancers	Fetal Stomach	stomach
13	chr22:33190000-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:33190200-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:33190400-33193400	Enhancers	Brain Cingulate Gyrus	brain
16	chr22:33190600-33192800	Enhancers	Brain Hippocampus Middle	brain
17	chr22:33190600-33192800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr22:33190600-33192800	Enhancers	Brain Substantia Nigra	brain
19	chr22:33190600-33193000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr22:33190600-33193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:33190600-33193400	Enhancers	Fetal Thymus	thymus
22	chr22:33190600-33194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr22:33190800-33193000	Enhancers	Brain Angular Gyrus	brain
24	chr22:33190800-33193200	Enhancers	Placenta	Placenta
25	chr22:33190800-33193200	Enhancers	Thymus	Thymus
26	chr22:33191000-33193800	Enhancers	HepG2	liver
27	chr22:33191200-33192600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr22:33191200-33192800	Weak transcription	NH-A	brain
29	chr22:33191200-33193400	Enhancers	Brain Anterior Caudate	brain
30	chr22:33191200-33193800	Enhancers	Osteobl	bone
31	chr22:33191400-33192600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr22:33191400-33197000	Weak transcription	Fetal Intestine Small	intestine
33	chr22:33191600-33192600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:33191600-33192600	Weak transcription	Fetal Intestine Large	intestine
35	chr22:33191800-33192800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr22:33191800-33193000	Enhancers	Left Ventricle	heart
37	chr22:33191800-33193600	Enhancers	Dnd41	blood
38	chr22:33192000-33193200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr22:33192200-33192600	Enhancers	Fetal Muscle Trunk	muscle
40	chr22:33192200-33192800	Weak transcription	Fetal Kidney	kidney
41	chr22:33192400-33192600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:33192400-33192800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:33192400-33192800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:33192400-33192800	Enhancers	Stomach Smooth Muscle	stomach
45	chr22:33192400-33193000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:33192400-33193000	Enhancers	Spleen	Spleen
47	chr22:33192400-33193200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:33192400-33193200	Enhancers	Lung	lung
49	chr22:33192400-33193200	Enhancers	Right Ventricle	heart
50	chr22:33192400-33193400	Enhancers	Adipose Nuclei	Adipose

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