Variant report

Variant	rs2283874
Chromosome Location	chr22:31498917-31498918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31497058..31499268-chr22:31535389..31537818,2	MCF-7	breast:
2	chr22:31498567..31500111-chr22:31500968..31503483,3	MCF-7	breast:
3	chr22:31498529..31501496-chr22:31501516..31503089,2	K562	blood:
4	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
5	chr22:31493570..31496471-chr22:31498580..31501028,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100078	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2240431	0.93[ASN][1000 genomes]
rs28365892	0.82[ASN][1000 genomes]
rs5749213	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5753437	0.84[AMR][1000 genomes]
rs5753440	0.94[AMR][1000 genomes]
rs5753441	0.94[AMR][1000 genomes]
rs5753443	0.94[AMR][1000 genomes]
rs5753444	0.94[AMR][1000 genomes]
rs5753448	0.89[AMR][1000 genomes]
rs5753451	0.88[AMR][1000 genomes]
rs5753452	0.89[AMR][1000 genomes]
rs7286875	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr22:31483200-31500600	Strong transcription	HUVEC	blood vessel
5	chr22:31483200-31502000	Strong transcription	NHEK	skin
6	chr22:31483800-31499600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:31484400-31499200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
10	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
11	chr22:31485400-31500000	Strong transcription	Pancreas	Pancrea
12	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
13	chr22:31488400-31500400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:31489000-31500000	Weak transcription	Primary T cells from cord blood	blood
15	chr22:31489200-31501400	Strong transcription	Gastric	stomach
16	chr22:31489600-31501600	Weak transcription	Brain Angular Gyrus	brain
17	chr22:31490800-31500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:31490800-31502000	Weak transcription	Brain Substantia Nigra	brain
19	chr22:31491000-31500600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
20	chr22:31491400-31502000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr22:31491800-31502600	Weak transcription	Liver	Liver
22	chr22:31493000-31500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:31493800-31499800	Genic enhancers	NHDF-Ad	bronchial
24	chr22:31493800-31501800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:31494800-31499000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr22:31494800-31499400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr22:31494800-31500000	Genic enhancers	Rectal Smooth Muscle	rectum
28	chr22:31494800-31501600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr22:31495200-31499000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr22:31495200-31500000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr22:31495200-31501800	Strong transcription	Left Ventricle	heart
32	chr22:31495400-31499000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:31495400-31500200	Strong transcription	Spleen	Spleen
34	chr22:31495400-31500800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:31495400-31502600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:31495600-31499800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:31495600-31501400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:31495600-31501400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr22:31495800-31499600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:31495800-31501000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr22:31495800-31502000	Weak transcription	Brain Anterior Caudate	brain
42	chr22:31496000-31500000	Strong transcription	Fetal Muscle Leg	muscle
43	chr22:31496000-31503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:31496200-31501000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr22:31496400-31502800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr22:31497000-31499800	Genic enhancers	NHLF	lung
47	chr22:31497200-31500000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:31497200-31500800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr22:31497400-31499800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr22:31497400-31499800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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