Variant report

Variant	rs12283898
Chromosome Location	chr11:63579191-63579192
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63571565..63574234-chr11:63577840..63579513,2	K562	blood:
2	chr11:63525704..63527853-chr11:63578506..63580593,2	K562	blood:
3	chr11:63532131..63535124-chr11:63579146..63582872,4	K562	blood:
4	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
5	chr11:63448233..63451551-chr11:63578408..63582128,5	K562	blood:

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000188070	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10897448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278871	0.83[AFR][1000 genomes]
rs12285245	0.89[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs320115	1.00[MEX][hapmap]
rs7129685	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63567600-63580000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr11:63570600-63579200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:63570600-63580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:63571000-63580000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:63571000-63580000	Weak transcription	A549	lung
7	chr11:63571800-63580000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:63572000-63580000	Weak transcription	Osteobl	bone
9	chr11:63572200-63580000	Weak transcription	HMEC	breast
10	chr11:63572400-63580000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:63572600-63580000	Weak transcription	Fetal Intestine Small	intestine
12	chr11:63572600-63580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:63572800-63580000	Weak transcription	Colonic Mucosa	Colon
14	chr11:63573800-63580000	Weak transcription	Ovary	ovary
15	chr11:63573800-63580200	Weak transcription	Left Ventricle	heart
16	chr11:63574000-63580000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:63574000-63580200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:63575200-63580000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:63575400-63580000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:63575800-63580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:63578200-63579200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:63578200-63579400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:63578600-63579400	Enhancers	K562	blood
24	chr11:63578600-63580000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:63578800-63579200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:63578800-63579200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:63578800-63579200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:63578800-63579200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:63578800-63579200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:63578800-63579400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:63578800-63579600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:63578800-63580200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:63578800-63580200	Weak transcription	Lung	lung
34	chr11:63578800-63580400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:63579000-63579200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr11:63579000-63579400	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:63579000-63579400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:63579000-63579800	Flanking Active TSS	HepG2	liver
39	chr11:63579000-63580000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr11:63579000-63580200	Weak transcription	Placenta	Placenta
41	chr11:63579000-63580600	Flanking Active TSS	Hela-S3	cervix

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