Variant report

Variant	rs56027747
Chromosome Location	chr11:17481009-17481010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17476148..17478074-chr11:17479961..17481656,2	MCF-7	breast:
2	chr11:17462780..17465155-chr11:17480733..17482429,2	K562	blood:
3	chr11:17475034..17476631-chr11:17480945..17483490,2	K562	blood:
4	chr11:17475103..17476631-chr11:17480945..17482872,2	K562	blood:

Variant related genes	Relation type
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12226635	0.84[EUR][1000 genomes]
rs12288157	0.97[EUR][1000 genomes]
rs12417921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12422005	0.93[EUR][1000 genomes]
rs16934136	0.93[EUR][1000 genomes]
rs34048175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55917084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56058349	0.93[EUR][1000 genomes]
rs56213202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56283872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56296742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56393905	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59060762	0.97[EUR][1000 genomes]
rs7110117	0.93[EUR][1000 genomes]
rs7111475	0.97[EUR][1000 genomes]
rs8192695	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv897019	chr11:17475443-17499547	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv897020	chr11:17476516-17491386	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv897021	chr11:17478157-17491386	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv897022	chr11:17478157-17496516	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17461200-17497400	Weak transcription	Gastric	stomach
2	chr11:17465800-17481600	Weak transcription	Fetal Brain Female	brain
3	chr11:17465800-17496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:17470200-17482000	Weak transcription	Brain Germinal Matrix	brain
5	chr11:17472400-17489600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:17474000-17482200	Weak transcription	Brain Angular Gyrus	brain
7	chr11:17474000-17485000	Weak transcription	Lung	lung
8	chr11:17474400-17481800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:17474600-17481800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:17474800-17481800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:17474800-17481800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:17479000-17481400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:17479200-17482200	Enhancers	Adipose Nuclei	Adipose
14	chr11:17479800-17481800	Weak transcription	Fetal Brain Male	brain
15	chr11:17479800-17485800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:17480000-17481400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:17480000-17481800	Weak transcription	Dnd41	blood
18	chr11:17480200-17494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:17480200-17494200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:17480200-17494800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:17481000-17481400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:17481000-17481800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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