Variant report

Variant	rs60187407
Chromosome Location	chr22:29342035-29342036
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11912894	1.00[EUR][1000 genomes]
rs11913224	1.00[EUR][1000 genomes]
rs11913805	1.00[EUR][1000 genomes]
rs55665300	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55945584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56089216	1.00[EUR][1000 genomes]
rs56332784	1.00[EUR][1000 genomes]
rs57119189	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57188271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57198336	1.00[EUR][1000 genomes]
rs57846969	1.00[EUR][1000 genomes]
rs58089713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162235	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58221763	1.00[EUR][1000 genomes]
rs59519868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs60003056	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60747358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780652	1.00[EUR][1000 genomes]
rs61257487	1.00[EUR][1000 genomes]
rs61581392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs722590	1.00[EUR][1000 genomes]
rs7287244	1.00[EUR][1000 genomes]
rs73881187	1.00[EUR][1000 genomes]
rs73881189	1.00[EUR][1000 genomes]
rs73881197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881200	1.00[EUR][1000 genomes]
rs73881201	1.00[EUR][1000 genomes]
rs73882404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882414	1.00[EUR][1000 genomes]
rs73882422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882424	1.00[EUR][1000 genomes]
rs73882428	1.00[EUR][1000 genomes]
rs73882440	1.00[EUR][1000 genomes]
rs73882443	1.00[EUR][1000 genomes]
rs73882445	1.00[EUR][1000 genomes]
rs73882447	1.00[EUR][1000 genomes]
rs73882449	1.00[EUR][1000 genomes]
rs8138963	1.00[EUR][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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29332000-29343000	Weak transcription	Brain Angular Gyrus	brain
3	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:29333800-29347800	Weak transcription	Gastric	stomach
5	chr22:29334600-29342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:29338600-29347600	Weak transcription	Left Ventricle	heart
9	chr22:29339400-29342800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:29339600-29342600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:29339600-29342600	Weak transcription	Small Intestine	intestine
12	chr22:29339600-29345400	Weak transcription	Lung	lung
13	chr22:29339600-29345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr22:29339600-29346800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:29339600-29347600	Weak transcription	Pancreas	Pancrea
16	chr22:29339800-29342400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:29339800-29342600	Weak transcription	Fetal Intestine Large	intestine
18	chr22:29339800-29347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:29339800-29352600	Weak transcription	Stomach Mucosa	stomach
20	chr22:29340000-29342400	Weak transcription	HepG2	liver
21	chr22:29340000-29342800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:29340000-29342800	Weak transcription	Fetal Kidney	kidney
23	chr22:29340000-29345600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr22:29340000-29345800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:29340000-29349200	Weak transcription	Aorta	Aorta
26	chr22:29340200-29342600	Weak transcription	Fetal Brain Male	brain
27	chr22:29340400-29342400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:29340400-29342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr22:29340400-29345600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr22:29341200-29342800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:29341800-29342800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:29341800-29343200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:29342000-29342200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
34	chr22:29342000-29342200	Strong transcription	A549	lung
35	chr22:29342000-29342400	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:29342000-29344600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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