Variant report

Variant	rs73158567
Chromosome Location	chr22:31690351-31690352
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31685822..31687584-chr22:31689344..31691234,2	K562	blood:
2	chr22:31689960..31693778-chr22:31698735..31700616,3	MCF-7	breast:
3	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
4	chr22:31689966..31691795-chr22:31696089..31697952,2	K562	blood:
5	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100105	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11703847	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11704156	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705159	0.90[AFR][1000 genomes]
rs16989459	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4820972	1.00[ASN][1000 genomes]
rs55661998	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749277	1.00[ASN][1000 genomes]
rs59473370	0.82[EUR][1000 genomes]
rs60389972	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695413	1.00[ASN][1000 genomes]
rs73158533	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73158543	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73158578	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158585	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158592	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160605	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73160624	0.83[ASN][1000 genomes]
rs8136792	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31686600-31690400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr22:31688400-31693400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:31688600-31690600	Weak transcription	Small Intestine	intestine
4	chr22:31688600-31691200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr22:31688600-31691400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr22:31688600-31691800	Weak transcription	Left Ventricle	heart
7	chr22:31688800-31690800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:31688800-31691400	Weak transcription	A549	lung
9	chr22:31688800-31691400	Weak transcription	HMEC	breast
10	chr22:31688800-31691600	Weak transcription	Psoas Muscle	Psoas
11	chr22:31688800-31692000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:31688800-31692000	Weak transcription	Colonic Mucosa	Colon
13	chr22:31688800-31692400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:31688800-31692400	Weak transcription	Fetal Lung	lung
15	chr22:31688800-31693000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr22:31689000-31691400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr22:31689000-31691400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:31689000-31691600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:31689000-31691600	Enhancers	GM12878-XiMat	blood
20	chr22:31689000-31691800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:31689000-31696400	Weak transcription	HepG2	liver
22	chr22:31689200-31690600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:31689200-31690600	Enhancers	Stomach Smooth Muscle	stomach
24	chr22:31689200-31690800	Enhancers	Rectal Smooth Muscle	rectum
25	chr22:31689200-31691400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:31689200-31691400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:31689200-31691400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:31689200-31691400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31689200-31691400	Weak transcription	Brain Angular Gyrus	brain
30	chr22:31689200-31691400	Weak transcription	Brain Substantia Nigra	brain
31	chr22:31689200-31691600	Weak transcription	Brain Anterior Caudate	brain
32	chr22:31689200-31692600	Enhancers	Primary B cells from cord blood	blood
33	chr22:31689200-31693000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr22:31689200-31696400	Weak transcription	Liver	Liver
35	chr22:31689200-31696400	Weak transcription	Right Atrium	heart
36	chr22:31689400-31691400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:31689400-31691600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr22:31689400-31709000	Weak transcription	Placenta	Placenta
39	chr22:31689600-31690800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr22:31689600-31690800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr22:31689600-31691400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:31689600-31691400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:31689600-31692000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:31689800-31690800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:31689800-31691200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:31689800-31691200	Weak transcription	NHEK	skin
47	chr22:31689800-31691400	Weak transcription	Adipose Nuclei	Adipose
48	chr22:31689800-31691400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr22:31689800-31691400	Weak transcription	HSMM	muscle
50	chr22:31689800-31691400	Weak transcription	NHDF-Ad	bronchial

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