Variant report

Variant	rs72729059
Chromosome Location	chr9:93616562-93616563
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	chr9:93607214..93610736-chr9:93616305..93618724,3	MCF-7	breast:
2	chr9:93562366..93565810-chr9:93615193..93619315,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165025	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10993708	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993714	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993715	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993717	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10993718	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10993730	1.00[AFR][1000 genomes]
rs12237702	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3827823	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72729032	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72729041	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72729045	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72729050	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72729056	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1039761	chr9:93598856-93677831	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1039326	chr9:93598856-93685729	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv430078	chr9:93609668-93642766	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1053252	chr9:93610132-93699103	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93599200-93616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:93604800-93616600	Weak transcription	NHEK	skin
4	chr9:93604800-93617200	Strong transcription	Spleen	Spleen
5	chr9:93605000-93622800	Weak transcription	Adipose Nuclei	Adipose
6	chr9:93605000-93633000	Weak transcription	Fetal Kidney	kidney
7	chr9:93605600-93617400	Strong transcription	Thymus	Thymus
8	chr9:93605800-93621400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr9:93605800-93621600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr9:93605800-93631000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:93606000-93616600	Strong transcription	Fetal Intestine Small	intestine
12	chr9:93606000-93619600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:93606200-93616800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr9:93606600-93617400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr9:93606600-93619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:93607000-93620000	Strong transcription	Primary B cells from cord blood	blood
17	chr9:93608200-93624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:93610400-93624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:93611200-93642200	Weak transcription	Stomach Mucosa	stomach
20	chr9:93611800-93620800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:93612400-93623200	Weak transcription	Colonic Mucosa	Colon
22	chr9:93613200-93621800	Weak transcription	Pancreas	Pancrea
23	chr9:93614800-93623800	Weak transcription	Left Ventricle	heart
24	chr9:93615000-93616800	Weak transcription	Fetal Lung	lung
25	chr9:93615200-93616800	Strong transcription	Fetal Stomach	stomach
26	chr9:93615400-93624000	Weak transcription	Gastric	stomach
27	chr9:93615600-93619000	Weak transcription	GM12878-XiMat	blood
28	chr9:93615600-93619200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:93615600-93619800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr9:93615600-93619800	Weak transcription	Fetal Intestine Large	intestine
31	chr9:93615600-93619800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:93615600-93623200	Weak transcription	Esophagus	oesophagus
33	chr9:93615600-93623600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:93616200-93616800	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr9:93616200-93617200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr9:93616200-93617800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr9:93616200-93618400	Enhancers	HMEC	breast
38	chr9:93616400-93616600	Enhancers	Fetal Thymus	thymus
39	chr9:93616400-93616800	ZNF genes & repeats	Lung	lung
40	chr9:93616400-93617000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:93616400-93617200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:93616400-93617200	Enhancers	K562	blood
43	chr9:93616400-93617400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:93616400-93617400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:93616400-93617600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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