Variant report

Variant	rs12099243
Chromosome Location	chr11:8092199-8092200
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8027965..8028589-chr11:8091639..8092221,2	MCF-7	breast:
2	chr11:8085796..8088311-chr11:8090818..8094631,3	K562	blood:
3	chr11:8027654..8028564-chr11:8092088..8092653,2	K562	blood:
4	chr11:8091175..8092761-chr11:8098490..8100768,2	K562	blood:
5	chr11:8092152..8092656-chr11:8100417..8101188,2	K562	blood:
6	chr11:8054475..8055081-chr11:8091864..8092628,2	MCF-7	breast:
7	chr11:8054442..8055441-chr11:8091763..8092397,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55961435	1.00[AMR][1000 genomes]
rs56395552	1.00[AMR][1000 genomes]
rs60194537	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7113295	1.00[AMR][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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8082800-8093600	Weak transcription	Brain Angular Gyrus	brain
2	chr11:8085800-8093800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:8088800-8093600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:8088800-8093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:8089000-8092200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:8089000-8092400	Enhancers	Fetal Stomach	stomach
7	chr11:8089600-8092800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr11:8090600-8092600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:8090800-8092200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:8090800-8092600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:8091000-8092200	Enhancers	Brain Hippocampus Middle	brain
12	chr11:8091200-8092600	Weak transcription	Fetal Brain Female	brain
13	chr11:8091200-8094400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:8091600-8092200	Weak transcription	Fetal Kidney	kidney
15	chr11:8091600-8092800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:8091600-8093400	Weak transcription	Fetal Thymus	thymus
17	chr11:8091600-8093600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:8091600-8093600	Weak transcription	Brain Anterior Caudate	brain
19	chr11:8091600-8093600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:8091600-8100200	Weak transcription	Pancreas	Pancrea
21	chr11:8091800-8092600	Weak transcription	Fetal Brain Male	brain

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