Variant report

Variant	rs12553775
Chromosome Location	chr9:96392389-96392390
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:
2	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
3	chr9:96391831..96394155-chr9:96413684..96415869,2	K562	blood:
4	chr9:96338187..96341203-chr9:96391174..96393981,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12551694	0.95[AMR][1000 genomes]
rs12555927	0.95[AMR][1000 genomes]
rs1963	0.95[AMR][1000 genomes]
rs2001587	0.81[AFR][1000 genomes]
rs2001588	0.81[AFR][1000 genomes]
rs2001609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35505758	0.81[AFR][1000 genomes]
rs3829059	0.95[AMR][1000 genomes]
rs55783552	0.95[AMR][1000 genomes]
rs56186220	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56310424	0.95[AMR][1000 genomes]
rs7033532	0.90[AMR][1000 genomes]
rs7038293	0.90[AMR][1000 genomes]
rs7038310	0.90[AMR][1000 genomes]
rs7038794	0.90[AMR][1000 genomes]
rs73522247	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73522252	0.84[AFR][1000 genomes]
rs73522271	0.81[AFR][1000 genomes]
rs73522292	0.81[AFR][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	nsv1040891	chr9:96361529-96397338	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1044461	chr9:96362048-96397338	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv893585	chr9:96363859-96403367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv893586	chr9:96363859-96493773	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1055035	chr9:96372269-96402747	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1036609	chr9:96375217-96477641	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv519449	chr9:96382100-96395429	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv893587	chr9:96383605-96451784	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96374600-96399800	Weak transcription	K562	blood
2	chr9:96376200-96393000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:96380200-96411800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:96380800-96399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:96384000-96396400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:96384600-96393600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr9:96384600-96412200	Weak transcription	Stomach Mucosa	stomach
8	chr9:96387000-96411800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:96387200-96392400	Weak transcription	Left Ventricle	heart
10	chr9:96387200-96399800	Weak transcription	Fetal Heart	heart
11	chr9:96387600-96399600	Weak transcription	Fetal Kidney	kidney
12	chr9:96390200-96398800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr9:96390200-96405400	Weak transcription	HepG2	liver
14	chr9:96390400-96392400	Weak transcription	Liver	Liver
15	chr9:96390400-96393400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:96390400-96395200	Weak transcription	NHLF	lung
17	chr9:96390400-96398600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:96390400-96399400	Weak transcription	Hela-S3	cervix
19	chr9:96390600-96392400	Weak transcription	Brain Angular Gyrus	brain
20	chr9:96390600-96392400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:96390600-96392400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr9:96390600-96392800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:96390600-96393200	Weak transcription	GM12878-XiMat	blood
24	chr9:96390600-96393400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:96390600-96393400	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:96390600-96393800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:96390600-96393800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:96390600-96395200	Weak transcription	Brain Substantia Nigra	brain
29	chr9:96390600-96397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:96390600-96398200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr9:96390600-96398400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:96390600-96399000	Weak transcription	Osteobl	bone
33	chr9:96390600-96399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:96390800-96392400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:96390800-96392400	Weak transcription	Fetal Brain Female	brain
36	chr9:96390800-96393400	Weak transcription	Primary B cells from cord blood	blood
37	chr9:96390800-96396800	Weak transcription	NHEK	skin
38	chr9:96390800-96398400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr9:96390800-96398600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:96391200-96392600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr9:96391200-96392800	Weak transcription	Fetal Lung	lung
42	chr9:96391200-96393200	Weak transcription	Brain Germinal Matrix	brain
43	chr9:96391400-96398800	Strong transcription	Fetal Intestine Small	intestine
44	chr9:96391400-96400800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr9:96391600-96395800	Strong transcription	Fetal Thymus	thymus
46	chr9:96391600-96398400	Strong transcription	Thymus	Thymus
47	chr9:96391600-96398600	Strong transcription	Fetal Intestine Large	intestine
48	chr9:96391600-96398800	Strong transcription	Aorta	Aorta
49	chr9:96391600-96399600	Strong transcription	Primary T cells from cord blood	blood
50	chr9:96391600-96399800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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