Variant report

Variant	rs130272
Chromosome Location	chr22:33203188-33203189
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	22:32846948-32860159..22:33190123-33206921	K562	blood:
3	chr22:33195652..33199571-chr22:33200330..33212129,15	MCF-7	breast:
4	chr22:32922025..32930472-chr22:33196157..33204507,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000184459	Chromatin interaction

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

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

rs_ID	r²[population]
rs130561	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13057881	0.80[AFR][1000 genomes]
rs135025	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737089	0.83[AFR][1000 genomes]
rs9606994	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9609632	0.80[AFR][1000 genomes]
rs9609633	0.82[AFR][1000 genomes]

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33199800-33206000	Weak transcription	Pancreas	Pancrea
2	chr22:33200000-33204000	Weak transcription	Brain Angular Gyrus	brain
3	chr22:33200400-33216200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:33200600-33203800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr22:33200600-33215200	Weak transcription	NHEK	skin
6	chr22:33200800-33203200	Enhancers	Spleen	Spleen
7	chr22:33200800-33203600	Weak transcription	Liver	Liver
8	chr22:33200800-33204200	Weak transcription	Small Intestine	intestine
9	chr22:33201000-33203200	Enhancers	Brain Cingulate Gyrus	brain
10	chr22:33201000-33204000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:33201000-33204000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:33201000-33204000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr22:33201000-33204600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:33201000-33205800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:33201000-33207200	Enhancers	Fetal Intestine Large	intestine
16	chr22:33201000-33210400	Weak transcription	HSMMtube	muscle
17	chr22:33201000-33214400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:33201000-33227400	Weak transcription	Aorta	Aorta
19	chr22:33201200-33204200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:33201200-33206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:33201200-33206400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:33201200-33211800	Weak transcription	Gastric	stomach
23	chr22:33201200-33222800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:33201400-33204000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:33201400-33204200	Weak transcription	Fetal Brain Female	brain
26	chr22:33201400-33204200	Weak transcription	Psoas Muscle	Psoas
27	chr22:33201400-33204200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:33201400-33204800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:33201400-33205400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:33201400-33205800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:33201400-33208800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:33201600-33204000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:33201600-33204000	Weak transcription	Fetal Lung	lung
34	chr22:33201600-33204000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr22:33201600-33204000	Weak transcription	HSMM	muscle
36	chr22:33201600-33204000	Weak transcription	NHLF	lung
37	chr22:33201600-33204200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr22:33201600-33204200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:33201600-33204200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:33201600-33206000	Weak transcription	Fetal Thymus	thymus
41	chr22:33201600-33206200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr22:33201600-33208000	Genic enhancers	Fetal Stomach	stomach
43	chr22:33201600-33226200	Weak transcription	NH-A	brain
44	chr22:33201800-33204000	Weak transcription	Brain Hippocampus Middle	brain
45	chr22:33201800-33206600	Genic enhancers	Osteobl	bone
46	chr22:33202000-33204000	Weak transcription	Colon Smooth Muscle	Colon
47	chr22:33202000-33220000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr22:33202200-33203200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr22:33202200-33204000	Enhancers	HepG2	liver
50	chr22:33202600-33203200	Genic enhancers	Left Ventricle	heart

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