Variant report

Variant	rs73882412
Chromosome Location	chr22:29347755-29347756
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16986964	1.00[AMR][1000 genomes]
rs16986970	1.00[AMR][1000 genomes]
rs16987068	1.00[AMR][1000 genomes]
rs56752813	1.00[AMR][1000 genomes]
rs57111962	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57724605	1.00[AMR][1000 genomes]
rs59264876	1.00[AMR][1000 genomes]
rs60213855	1.00[AMR][1000 genomes]
rs6519768	1.00[AMR][1000 genomes]
rs73881171	1.00[AMR][1000 genomes]
rs73881179	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881184	1.00[AMR][1000 genomes]
rs73881191	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881193	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882417	1.00[AMR][1000 genomes]
rs73882419	1.00[AMR][1000 genomes]
rs73882420	1.00[AMR][1000 genomes]
rs73882421	1.00[AMR][1000 genomes]
rs73882423	1.00[AMR][1000 genomes]
rs73882432	1.00[AMR][1000 genomes]
rs73882446	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29333800-29347800	Weak transcription	Gastric	stomach
2	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29339800-29352600	Weak transcription	Stomach Mucosa	stomach
4	chr22:29340000-29349200	Weak transcription	Aorta	Aorta
5	chr22:29343000-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:29345200-29350800	Enhancers	Fetal Muscle Leg	muscle
7	chr22:29345400-29349800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:29345400-29350000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr22:29345400-29350000	Enhancers	Fetal Lung	lung
10	chr22:29345600-29349600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:29345600-29350200	Enhancers	Fetal Kidney	kidney
12	chr22:29345800-29347800	Enhancers	Adipose Nuclei	Adipose
13	chr22:29345800-29349400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr22:29345800-29349800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr22:29345800-29350000	Enhancers	Rectal Smooth Muscle	rectum
16	chr22:29345800-29350600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:29345800-29351200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:29346000-29348600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr22:29346000-29350000	Enhancers	Liver	Liver
20	chr22:29346200-29348400	Enhancers	Brain Anterior Caudate	brain
21	chr22:29346400-29347800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:29346400-29347800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr22:29346400-29347800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:29346400-29347800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr22:29346400-29348000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:29346400-29348000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:29346400-29348200	Enhancers	Brain Cingulate Gyrus	brain
28	chr22:29346400-29353800	Weak transcription	NHEK	skin
29	chr22:29346400-29357400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:29346600-29347800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:29346600-29348000	Weak transcription	NHLF	lung
32	chr22:29346600-29348200	Weak transcription	A549	lung
33	chr22:29346600-29348400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:29346600-29352800	Weak transcription	Brain Substantia Nigra	brain
35	chr22:29346800-29347800	Enhancers	Fetal Brain Female	brain
36	chr22:29346800-29348000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:29347000-29347800	Weak transcription	Brain Angular Gyrus	brain
38	chr22:29347000-29347800	Enhancers	HSMMtube	muscle
39	chr22:29347000-29348000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:29347000-29348000	Weak transcription	Fetal Heart	heart
41	chr22:29347000-29350800	Enhancers	Placenta	Placenta
42	chr22:29347200-29347800	Enhancers	HepG2	liver
43	chr22:29347200-29348400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr22:29347200-29348600	Enhancers	Brain Hippocampus Middle	brain
45	chr22:29347200-29349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr22:29347200-29350400	Enhancers	Osteobl	bone
47	chr22:29347400-29347800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29347400-29348000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:29347400-29348200	Enhancers	Lung	lung
50	chr22:29347400-29348400	Bivalent Enhancer	Fetal Thymus	thymus

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