Variant report

Variant	rs12419780
Chromosome Location	chr11:9571458-9571459
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9571322..9573839-chr11:9593135..9594742,2	K562	blood:
2	chr11:9568845..9571687-chr11:9584887..9588647,3	MCF-7	breast:
3	chr11:9566972..9569525-chr11:9570398..9574349,5	K562	blood:
4	chr11:9555607..9558694-chr11:9571396..9573627,3	K562	blood:
5	chr11:9570291..9573673-chr11:9600141..9602765,3	K562	blood:
6	chr11:9549118..9551478-chr11:9570161..9571670,2	K562	blood:
7	chr11:9570030..9575978-chr11:9591683..9598745,10	K562	blood:

Variant related genes	Relation type
ENSG00000243869	Chromatin interaction
ENSG00000166483	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10082685	0.86[AMR][1000 genomes]
rs10840246	0.86[AMR][1000 genomes]
rs11042401	0.86[AMR][1000 genomes]
rs11042402	0.86[AMR][1000 genomes]
rs11600094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11600357	0.86[AMR][1000 genomes]
rs11602025	0.86[AMR][1000 genomes]
rs11602056	0.86[AMR][1000 genomes]
rs11607631	0.86[AMR][1000 genomes]
rs12274655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280032	0.86[AMR][1000 genomes]
rs12280301	0.86[AMR][1000 genomes]
rs12284187	0.86[AMR][1000 genomes]
rs12284407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12285570	0.86[AMR][1000 genomes]
rs12292907	0.86[AMR][1000 genomes]
rs12293264	0.86[AMR][1000 genomes]
rs12293634	0.86[AMR][1000 genomes]
rs1546	0.86[AMR][1000 genomes]
rs2313088	0.82[EUR][1000 genomes]
rs35283628	0.98[EUR][1000 genomes]
rs4910054	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4910466	0.86[AMR][1000 genomes]
rs4910467	0.86[AMR][1000 genomes]
rs4910471	0.86[AMR][1000 genomes]
rs4910474	0.94[EUR][1000 genomes]
rs4910475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116319	0.86[AMR][1000 genomes]
rs56320702	0.86[AMR][1000 genomes]
rs7102407	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv971928	chr11:9561378-9586236	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9547800-9586600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:9549400-9581000	Weak transcription	Primary B cells from cord blood	blood
3	chr11:9549800-9578200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr11:9550600-9586600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:9551000-9581200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:9551400-9582600	Weak transcription	Primary T cells from cord blood	blood
7	chr11:9551800-9573400	Weak transcription	Right Ventricle	heart
8	chr11:9553000-9573400	Weak transcription	Gastric	stomach
9	chr11:9555200-9571800	Weak transcription	Ovary	ovary
10	chr11:9557000-9573600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:9557200-9579000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:9557400-9584400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:9558200-9571600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:9561600-9573600	Weak transcription	Fetal Lung	lung
15	chr11:9565000-9580600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:9566400-9587400	Weak transcription	Psoas Muscle	Psoas
17	chr11:9567400-9573400	Weak transcription	Left Ventricle	heart
18	chr11:9568200-9573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:9568400-9571600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:9568400-9573000	Weak transcription	HUVEC	blood vessel
21	chr11:9568600-9573400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:9568600-9573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:9569600-9584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:9570200-9573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:9570200-9573400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:9570600-9571800	Enhancers	Fetal Intestine Small	intestine
27	chr11:9570800-9580600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr11:9571000-9571800	Enhancers	Primary hematopoietic stem cells	blood
29	chr11:9571200-9571600	Enhancers	K562	blood
30	chr11:9571200-9571800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:9571200-9572000	Enhancers	GM12878-XiMat	blood
32	chr11:9571200-9572200	Enhancers	Fetal Intestine Large	intestine
33	chr11:9571200-9572400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:9571400-9572000	Enhancers	Cortex derived primary cultured neurospheres	brain

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