Variant report

Variant	rs62236155
Chromosome Location	chr22:31500671-31500672
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31494012..31497911-chr22:31499689..31503512,5	K562	blood:
2	chr22:31475364..31478247-chr22:31499584..31502277,3	MCF-7	breast:
3	chr22:31478371..31481367-chr22:31500336..31503939,6	K562	blood:
4	chr22:31498529..31501496-chr22:31501516..31503089,2	K562	blood:
5	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
6	chr22:31482757..31485252-chr22:31500477..31503688,4	K562	blood:
7	chr22:31493570..31496471-chr22:31498580..31501028,4	MCF-7	breast:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11089489	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11705137	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12167220	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13053329	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1807739	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2017301	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4820938	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4820939	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4820940	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4820941	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9621188	0.89[AMR][1000 genomes];0.93[EUR][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	chr22:31483200-31502000	Strong transcription	NHEK	skin
5	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
7	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
8	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
9	chr22:31489200-31501400	Strong transcription	Gastric	stomach
10	chr22:31489600-31501600	Weak transcription	Brain Angular Gyrus	brain
11	chr22:31490800-31502000	Weak transcription	Brain Substantia Nigra	brain
12	chr22:31491400-31502000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:31491800-31502600	Weak transcription	Liver	Liver
14	chr22:31493000-31500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr22:31493800-31501800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:31494800-31501600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:31495200-31501800	Strong transcription	Left Ventricle	heart
18	chr22:31495400-31500800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:31495400-31502600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:31495600-31501400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:31495600-31501400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr22:31495800-31501000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:31495800-31502000	Weak transcription	Brain Anterior Caudate	brain
24	chr22:31496000-31503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr22:31496200-31501000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr22:31496400-31502800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr22:31497200-31500800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:31497400-31502000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr22:31497400-31502400	Weak transcription	Small Intestine	intestine
30	chr22:31497400-31503000	Weak transcription	Dnd41	blood
31	chr22:31497800-31502600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
32	chr22:31498000-31501800	Genic enhancers	Placenta	Placenta
33	chr22:31498000-31502200	Genic enhancers	Fetal Stomach	stomach
34	chr22:31498200-31501600	Genic enhancers	Colonic Mucosa	Colon
35	chr22:31498200-31502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:31498400-31501000	Weak transcription	Fetal Heart	heart
37	chr22:31498600-31501000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr22:31498600-31502200	Weak transcription	A549	lung
39	chr22:31498600-31502600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr22:31498600-31503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:31498600-31503000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:31498600-31503000	Weak transcription	Thymus	Thymus
43	chr22:31498800-31500800	Weak transcription	Brain Hippocampus Middle	brain
44	chr22:31498800-31501000	Weak transcription	Fetal Brain Female	brain
45	chr22:31498800-31501800	Weak transcription	Right Atrium	heart
46	chr22:31498800-31502800	Weak transcription	Fetal Lung	lung
47	chr22:31498800-31503000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:31499000-31500800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:31499000-31500800	Weak transcription	Brain Germinal Matrix	brain
50	chr22:31499000-31501400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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