Variant report

Variant	rs12548011
Chromosome Location	chr8:9756449-9756450
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9755502..9758474-chr8:9759081..9761841,2	K562	blood:
2	chr8:9743412..9745954-chr8:9754080..9756924,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253230	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10098618	0.84[EUR][1000 genomes]
rs10104236	0.83[EUR][1000 genomes]
rs10108550	0.83[EUR][1000 genomes]
rs11987861	0.89[EUR][1000 genomes]
rs12056944	0.83[EUR][1000 genomes]
rs12543685	0.87[EUR][1000 genomes]
rs12543996	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12544019	0.89[EUR][1000 genomes]
rs12545481	0.87[EUR][1000 genomes]
rs12546952	0.85[EUR][1000 genomes]
rs12549629	0.86[EUR][1000 genomes]
rs13252210	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13270146	0.90[EUR][1000 genomes]
rs17150693	0.86[EUR][1000 genomes]
rs1962430	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs491364	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs592420	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59880252	0.88[EUR][1000 genomes]
rs612689	0.86[EUR][1000 genomes]
rs62489486	0.90[EUR][1000 genomes]
rs62489489	0.87[EUR][1000 genomes]
rs6601389	0.83[EUR][1000 genomes]
rs6601390	0.82[EUR][1000 genomes]
rs6601393	0.83[EUR][1000 genomes]
rs6989793	0.82[EUR][1000 genomes]
rs6990268	0.83[EUR][1000 genomes]
rs6996932	0.88[EUR][1000 genomes]
rs7828229	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9753000-9757600	Enhancers	Fetal Brain Male	brain
2	chr8:9755400-9756600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:9755400-9756800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:9755400-9757000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
5	chr8:9755600-9756800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr8:9755600-9757000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr8:9755600-9757000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr8:9755800-9756600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
9	chr8:9755800-9756800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:9755800-9757000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr8:9755800-9757000	Bivalent Enhancer	Fetal Stomach	stomach
12	chr8:9755800-9757200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
13	chr8:9755800-9757200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:9755800-9757200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:9755800-9757200	Enhancers	Spleen	Spleen
16	chr8:9755800-9757400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:9756000-9756600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:9756000-9756600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:9756000-9756600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:9756000-9756600	Bivalent Enhancer	Right Ventricle	heart
21	chr8:9756000-9756800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:9756000-9756800	Active TSS	Fetal Brain Female	brain
23	chr8:9756000-9757200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:9756200-9756600	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr8:9756200-9756800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:9756200-9757000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:9756200-9757000	Bivalent Enhancer	Lung	lung
28	chr8:9756200-9757000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
29	chr8:9756200-9757400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:9756200-9757400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr8:9756400-9756600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:9756400-9756600	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:9756400-9756600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:9756400-9756600	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
35	chr8:9756400-9756600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr8:9756400-9756600	Bivalent Enhancer	Fetal Lung	lung
37	chr8:9756400-9756600	Bivalent Enhancer	HSMMtube	muscle
38	chr8:9756400-9756800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr8:9756400-9756800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr8:9756400-9757000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:9756400-9757000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr8:9756400-9757200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr8:9756400-9757200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr8:9756400-9757200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:9756400-9757200	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr8:9756400-9757200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr8:9756400-9757200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr8:9756400-9757400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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