Variant report

Variant	rs73156787
Chromosome Location	chr22:31499755-31499756
allele	A/G
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	chr22:31498567..31500111-chr22:31500968..31503483,3	MCF-7	breast:
3	chr22:31475364..31478247-chr22:31499584..31502277,3	MCF-7	breast:
4	chr22:31498529..31501496-chr22:31501516..31503089,2	K562	blood:
5	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
6	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: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12485186	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990125	1.00[ASN][1000 genomes]
rs2413016	1.00[ASN][1000 genomes]
rs4820933	1.00[ASN][1000 genomes]
rs56017492	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753446	1.00[ASN][1000 genomes]
rs73156781	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156792	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156799	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs917208	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
8	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
9	chr22:31485400-31500000	Strong transcription	Pancreas	Pancrea
10	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
11	chr22:31488400-31500400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:31489000-31500000	Weak transcription	Primary T cells from cord blood	blood
13	chr22:31489200-31501400	Strong transcription	Gastric	stomach
14	chr22:31489600-31501600	Weak transcription	Brain Angular Gyrus	brain
15	chr22:31490800-31500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:31490800-31502000	Weak transcription	Brain Substantia Nigra	brain
17	chr22:31491000-31500600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
18	chr22:31491400-31502000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
19	chr22:31491800-31502600	Weak transcription	Liver	Liver
20	chr22:31493000-31500800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr22:31493800-31499800	Genic enhancers	NHDF-Ad	bronchial
22	chr22:31493800-31501800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:31494800-31500000	Genic enhancers	Rectal Smooth Muscle	rectum
24	chr22:31494800-31501600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr22:31495200-31500000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:31495200-31501800	Strong transcription	Left Ventricle	heart
27	chr22:31495400-31500200	Strong transcription	Spleen	Spleen
28	chr22:31495400-31500800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:31495400-31502600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:31495600-31499800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:31495600-31501400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:31495600-31501400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr22:31495800-31501000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr22:31495800-31502000	Weak transcription	Brain Anterior Caudate	brain
35	chr22:31496000-31500000	Strong transcription	Fetal Muscle Leg	muscle
36	chr22:31496000-31503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr22:31496200-31501000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr22:31496400-31502800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr22:31497000-31499800	Genic enhancers	NHLF	lung
40	chr22:31497200-31500000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:31497200-31500800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr22:31497400-31499800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:31497400-31499800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr22:31497400-31500200	Weak transcription	Aorta	Aorta
45	chr22:31497400-31502000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr22:31497400-31502400	Weak transcription	Small Intestine	intestine
47	chr22:31497400-31503000	Weak transcription	Dnd41	blood
48	chr22:31497800-31499800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr22:31497800-31499800	Genic enhancers	Fetal Intestine Large	intestine
50	chr22:31497800-31500000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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