Variant report

Variant	rs60173794
Chromosome Location	chr22:33713148-33713149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33711253..33713624-chr22:33778569..33781102,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11913092	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11913784	0.83[EUR][1000 genomes]
rs11913954	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16992108	0.86[EUR][1000 genomes]
rs16992122	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992125	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992140	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992147	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992150	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992152	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16992154	1.00[EUR][1000 genomes]
rs16992178	0.83[EUR][1000 genomes]
rs16992180	0.83[EUR][1000 genomes]
rs16992182	0.83[EUR][1000 genomes]
rs16992183	0.83[EUR][1000 genomes]
rs16992192	0.83[EUR][1000 genomes]
rs58327654	1.00[EUR][1000 genomes]
rs5998885	0.83[EUR][1000 genomes]
rs8135054	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8136451	0.98[AFR][1000 genomes]
rs8138098	1.00[EUR][1000 genomes]
rs8138392	1.00[EUR][1000 genomes]
rs8138517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139218	0.97[AFR][1000 genomes]
rs8142048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1060896	chr22:33698546-33729763	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1059522	chr22:33706201-33728482	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
5	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
6	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:33679400-33713800	Weak transcription	Brain Germinal Matrix	brain
9	chr22:33679400-33733200	Weak transcription	Fetal Brain Female	brain
10	chr22:33679400-33743800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:33690200-33718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:33696200-33725000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:33696200-33748000	Weak transcription	Fetal Lung	lung
14	chr22:33696400-33725000	Weak transcription	Stomach Mucosa	stomach
15	chr22:33696600-33721600	Weak transcription	Fetal Kidney	kidney
16	chr22:33698400-33718400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:33698600-33736400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:33698800-33719800	Weak transcription	HepG2	liver
19	chr22:33699200-33713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:33699400-33714400	Weak transcription	Brain Substantia Nigra	brain
21	chr22:33699400-33722800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:33699400-33731800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:33700000-33713200	Weak transcription	GM12878-XiMat	blood
24	chr22:33700600-33714800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:33700600-33715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr22:33704200-33715800	Weak transcription	Fetal Brain Male	brain
27	chr22:33704600-33723400	Weak transcription	Aorta	Aorta
28	chr22:33707000-33720400	Weak transcription	Fetal Heart	heart
29	chr22:33710400-33733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr22:33710400-33733400	Weak transcription	Spleen	Spleen
31	chr22:33710600-33740000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr22:33710800-33713600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr22:33710800-33713600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:33710800-33726400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:33710800-33726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:33711200-33722600	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:33711200-33735800	Weak transcription	Colon Smooth Muscle	Colon
38	chr22:33711400-33713800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:33711400-33726800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:33711400-33733000	Weak transcription	Brain Anterior Caudate	brain
41	chr22:33711600-33718400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:33711600-33731800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:33712200-33716200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr22:33712200-33718400	Weak transcription	Adipose Nuclei	Adipose
45	chr22:33712200-33724800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:33712200-33725000	Weak transcription	Fetal Intestine Large	intestine
47	chr22:33712200-33725000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr22:33712200-33730600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:33712200-33731600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr22:33712200-33732600	Weak transcription	Brain Hippocampus Middle	brain

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