Variant report

Variant	rs135653
Chromosome Location	chr22:28558418-28558419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12167128	0.84[EUR][1000 genomes]
rs130414	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2038287	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143420	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
2	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:28540200-28558600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr22:28540200-28567800	Weak transcription	Gastric	stomach
5	chr22:28540800-28567800	Weak transcription	Small Intestine	intestine
6	chr22:28543400-28559200	Weak transcription	Fetal Kidney	kidney
7	chr22:28543400-28568800	Weak transcription	NHDF-Ad	bronchial
8	chr22:28543600-28559000	Weak transcription	Pancreas	Pancrea
9	chr22:28543800-28558600	Weak transcription	Fetal Stomach	stomach
10	chr22:28543800-28567200	Weak transcription	Fetal Heart	heart
11	chr22:28547000-28558600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:28547000-28558600	Weak transcription	Left Ventricle	heart
13	chr22:28547400-28558600	Weak transcription	Liver	Liver
14	chr22:28547600-28559600	Weak transcription	HepG2	liver
15	chr22:28548400-28559200	Weak transcription	Fetal Brain Male	brain
16	chr22:28548400-28566600	Weak transcription	Colon Smooth Muscle	Colon
17	chr22:28551200-28561000	Weak transcription	Osteobl	bone
18	chr22:28552400-28558600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:28552400-28558600	Weak transcription	Ovary	ovary
20	chr22:28553800-28558800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr22:28554000-28559000	Weak transcription	Fetal Lung	lung
22	chr22:28554200-28558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:28555000-28561800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:28555600-28559000	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:28556400-28559000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:28556600-28558600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:28556800-28559200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:28556800-28567000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr22:28557000-28559000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:28557200-28560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr22:28557400-28559200	Strong transcription	Dnd41	blood
32	chr22:28557400-28559800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:28557600-28558600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:28557600-28558600	Weak transcription	Fetal Intestine Small	intestine
35	chr22:28557600-28558600	Weak transcription	Lung	lung
36	chr22:28557600-28559600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:28557600-28567800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr22:28557800-28558600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr22:28558000-28559400	Strong transcription	Fetal Intestine Large	intestine
40	chr22:28558000-28559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:28558000-28560400	Weak transcription	Primary T cells from cord blood	blood
42	chr22:28558000-28560400	Weak transcription	HSMMtube	muscle
43	chr22:28558200-28558600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr22:28558200-28559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:28558400-28558800	Weak transcription	Brain Germinal Matrix	brain
46	chr22:28558400-28559200	Strong transcription	Brain Hippocampus Middle	brain
47	chr22:28558400-28559200	Strong transcription	Fetal Brain Female	brain
48	chr22:28558400-28559400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:28558400-28559400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr22:28558400-28559600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links