Variant report

Variant	rs8137129
Chromosome Location	chr22:33194665-33194666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32284948-32287956..22:33190123-33206921	K562	blood:
2	chr22:33193803..33196091-chr22:33197743..33200134,2	K562	blood:
3	22:32846948-32860159..22:33190123-33206921	K562	blood:

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction
ENSG00000227813	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2234921	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754290	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619311	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:54 , 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	chr22:33182600-33195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:33191400-33197000	Weak transcription	Fetal Intestine Small	intestine
5	chr22:33193000-33195000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:33193000-33195600	Weak transcription	Spleen	Spleen
7	chr22:33193000-33196200	Weak transcription	Fetal Kidney	kidney
8	chr22:33193000-33196600	Weak transcription	Left Ventricle	heart
9	chr22:33193000-33196800	Weak transcription	Brain Angular Gyrus	brain
10	chr22:33193000-33197200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:33193200-33195000	Weak transcription	Placenta	Placenta
12	chr22:33193200-33195600	Weak transcription	Lung	lung
13	chr22:33193200-33195800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:33193200-33196000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33193200-33196200	Weak transcription	NHLF	lung
16	chr22:33193200-33196600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:33193200-33196600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:33193200-33196600	Weak transcription	Right Ventricle	heart
19	chr22:33193200-33196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:33193200-33196800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:33193200-33196800	Weak transcription	Fetal Lung	lung
22	chr22:33193200-33197000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr22:33193200-33197000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:33193200-33197000	Weak transcription	Liver	Liver
25	chr22:33193200-33197200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:33193200-33197200	Weak transcription	Brain Substantia Nigra	brain
27	chr22:33193200-33197200	Weak transcription	Esophagus	oesophagus
28	chr22:33193200-33197200	Weak transcription	Pancreas	Pancrea
29	chr22:33193400-33195400	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:33193400-33195600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:33193400-33195600	Weak transcription	Adipose Nuclei	Adipose
32	chr22:33193400-33195600	Weak transcription	Fetal Stomach	stomach
33	chr22:33193400-33195800	Weak transcription	Fetal Heart	heart
34	chr22:33193400-33196000	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:33193400-33196000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr22:33193400-33196200	Weak transcription	Right Atrium	heart
37	chr22:33193400-33196200	Weak transcription	NHDF-Ad	bronchial
38	chr22:33193400-33196400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr22:33193400-33196800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:33193400-33196800	Weak transcription	HMEC	breast
41	chr22:33193400-33197000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:33193400-33197000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr22:33193400-33197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:33193400-33197200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr22:33193600-33195400	Weak transcription	HSMM	muscle
46	chr22:33193600-33195400	Weak transcription	HSMMtube	muscle
47	chr22:33193600-33197000	Weak transcription	Brain Hippocampus Middle	brain
48	chr22:33193600-33197000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:33193800-33195600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:33193800-33195600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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