Variant report

Variant	rs57139579
Chromosome Location	chr22:33232273-33232274
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32920308-32927723..22:33230875-33232758	K562	blood:
2	chr22:33231459..33233462-chr22:33245687..33247354,2	K562	blood:
3	chr22:33232248..33234896-chr22:33237867..33240280,2	MCF-7	breast:
4	chr22:33225157..33228070-chr22:33230052..33232364,2	K562	blood:
5	chr22:33223873..33228070-chr22:33230052..33232364,3	K562	blood:
6	22:32764253-32784733..22:33230875-33232758	K562	blood:

Variant related genes	Relation type
ENSG00000205853	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000230736	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs16991252	1.00[AMR][1000 genomes]
rs16991417	1.00[AMR][1000 genomes]
rs16991442	1.00[AMR][1000 genomes]
rs35396081	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55843131	1.00[AMR][1000 genomes]
rs56283234	1.00[AMR][1000 genomes]
rs57490118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57620882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57966112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58394026	1.00[AMR][1000 genomes]
rs58627239	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58709981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5998647	1.00[AMR][1000 genomes]
rs60903857	1.00[AMR][1000 genomes]
rs73881773	1.00[AMR][1000 genomes]
rs73881787	1.00[AMR][1000 genomes]
rs73881794	1.00[AMR][1000 genomes]
rs73881795	1.00[AMR][1000 genomes]
rs73881801	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881903	1.00[AMR][1000 genomes]
rs73881907	1.00[AMR][1000 genomes]
rs73885104	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73885107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73885108	1.00[AMR][1000 genomes]
rs73885115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73885116	0.94[AFR][1000 genomes]
rs73885117	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73885122	1.00[AMR][1000 genomes]
rs8142286	1.00[AMR][1000 genomes]
rs9619287	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
2	chr22:33217800-33248600	Weak transcription	Gastric	stomach
3	chr22:33222200-33236000	Enhancers	Right Atrium	heart
4	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
5	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:33222800-33238200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr22:33223200-33232600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:33223400-33235400	Weak transcription	Fetal Intestine Large	intestine
9	chr22:33224200-33233400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:33224800-33234200	Weak transcription	Fetal Kidney	kidney
11	chr22:33226200-33236200	Weak transcription	Fetal Intestine Small	intestine
12	chr22:33226400-33233800	Weak transcription	NHEK	skin
13	chr22:33226600-33232600	Weak transcription	Esophagus	oesophagus
14	chr22:33226600-33233600	Strong transcription	Osteobl	bone
15	chr22:33226600-33235600	Weak transcription	NH-A	brain
16	chr22:33226600-33238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:33226600-33238400	Enhancers	Fetal Heart	heart
18	chr22:33227000-33232600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr22:33227000-33235000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr22:33227200-33234200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr22:33227400-33235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:33227600-33237200	Strong transcription	HepG2	liver
24	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:33227800-33236800	Weak transcription	Liver	Liver
27	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr22:33228000-33232600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr22:33228000-33232600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:33228000-33234200	Weak transcription	Fetal Lung	lung
32	chr22:33228000-33236800	Weak transcription	Brain Angular Gyrus	brain
33	chr22:33228000-33245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr22:33228200-33232600	Weak transcription	Brain Anterior Caudate	brain
37	chr22:33228200-33232600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr22:33228200-33232800	Weak transcription	Brain Substantia Nigra	brain
39	chr22:33228200-33233800	Weak transcription	Brain Hippocampus Middle	brain
40	chr22:33228400-33232400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:33228600-33233600	Strong transcription	HMEC	breast
42	chr22:33228600-33233800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:33228600-33235600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:33228800-33236800	Genic enhancers	Right Ventricle	heart
45	chr22:33229000-33235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:33230200-33232600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr22:33230400-33232400	Strong transcription	HSMMtube	muscle
48	chr22:33230800-33234600	Strong transcription	HSMM	muscle
49	chr22:33231000-33233800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:33231200-33233800	Weak transcription	Aorta	Aorta

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