Variant report

Variant	rs55945584
Chromosome Location	chr22:29339763-29339764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29278303..29280288-chr22:29337849..29340109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183579	Chromatin interaction

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]
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]
rs60187407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29331400-29341000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:29332000-29343000	Weak transcription	Brain Angular Gyrus	brain
4	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:29333800-29347800	Weak transcription	Gastric	stomach
6	chr22:29334400-29340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:29334600-29342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:29334800-29340000	Enhancers	HepG2	liver
9	chr22:29335400-29340000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr22:29335400-29340000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:29336000-29339800	Enhancers	Fetal Intestine Large	intestine
13	chr22:29336000-29339800	Enhancers	Fetal Intestine Small	intestine
14	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:29337000-29342000	Weak transcription	A549	lung
16	chr22:29337800-29339800	Enhancers	Duodenum Mucosa	Duodenum
17	chr22:29337800-29340000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr22:29337800-29340400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:29338000-29339800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr22:29338000-29339800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr22:29338200-29339800	Enhancers	Brain Hippocampus Middle	brain
22	chr22:29338200-29339800	Enhancers	Placenta	Placenta
23	chr22:29338200-29340000	Enhancers	Fetal Kidney	kidney
24	chr22:29338200-29340200	Enhancers	Liver	Liver
25	chr22:29338200-29340200	Enhancers	Brain Anterior Caudate	brain
26	chr22:29338400-29340000	Enhancers	Colon Smooth Muscle	Colon
27	chr22:29338600-29339800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr22:29338600-29339800	Enhancers	Stomach Mucosa	stomach
29	chr22:29338600-29347600	Weak transcription	Left Ventricle	heart
30	chr22:29338800-29339800	Enhancers	Brain Germinal Matrix	brain
31	chr22:29338800-29339800	Enhancers	Fetal Lung	lung
32	chr22:29338800-29340000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr22:29338800-29340200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr22:29338800-29340200	Enhancers	Fetal Muscle Leg	muscle
35	chr22:29339000-29340000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr22:29339000-29340200	Enhancers	Fetal Brain Male	brain
37	chr22:29339000-29340200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr22:29339200-29339800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:29339200-29339800	Enhancers	Psoas Muscle	Psoas
40	chr22:29339200-29340000	Enhancers	Fetal Brain Female	brain
41	chr22:29339200-29340000	Enhancers	Stomach Smooth Muscle	stomach
42	chr22:29339400-29339800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:29339400-29339800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr22:29339400-29339800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr22:29339400-29339800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:29339400-29339800	Enhancers	Right Atrium	heart
47	chr22:29339400-29340000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29339400-29340000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:29339400-29340000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:29339400-29340000	Enhancers	Aorta	Aorta

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