Variant report

Variant	rs577217
Chromosome Location	chr11:72489023-72489024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72461419..72464516-chr11:72486032..72490406,8	K562	blood:
2	chr11:72435817..72438823-chr11:72487654..72491080,3	MCF-7	breast:
3	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
4	chr11:72488039..72490331-chr11:72523626..72526191,4	MCF-7	breast:
5	chr11:72461233..72465803-chr11:72486495..72489028,5	K562	blood:
6	chr11:72486581..72489149-chr11:72499253..72500908,2	K562	blood:
7	chr11:72488704..72491459-chr11:72512164..72514082,2	K562	blood:
8	chr11:72469298..72471779-chr11:72488007..72489993,2	K562	blood:
9	chr11:72467688..72472883-chr11:72486333..72493012,8	K562	blood:
10	chr11:72487461..72489322-chr11:72496759..72499028,2	K562	blood:
11	chr11:72485192..72489717-chr11:72502704..72506802,5	K562	blood:
12	chr11:72461343..72465080-chr11:72486483..72490013,6	MCF-7	breast:
13	chr11:72488217..72489739-chr11:72523878..72525694,2	K562	blood:
14	chr11:72487983..72489768-chr11:72558586..72560433,2	K562	blood:
15	chr11:72451346..72453468-chr11:72486607..72489081,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10898872	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235595	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235597	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1126205	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12418930	0.88[JPT][hapmap]
rs3765638	0.80[CHB][hapmap];0.82[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4456279	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61894194	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs577217	PDE2A	cis	parietal	SCAN
rs577217	STARD10	cis	parietal	SCAN
rs577217	P2RY2	cis	parietal	SCAN
rs577217	RELT	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72464400-72491400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr11:72464600-72492000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:72470000-72491400	Weak transcription	Aorta	Aorta
4	chr11:72470400-72491000	Weak transcription	Brain Germinal Matrix	brain
5	chr11:72470600-72492000	Weak transcription	Primary T cells from cord blood	blood
6	chr11:72474200-72491400	Weak transcription	Primary B cells from cord blood	blood
7	chr11:72474600-72490600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:72475400-72491000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:72480200-72489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:72481600-72489800	Genic enhancers	Gastric	stomach
11	chr11:72481800-72492000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:72482000-72489400	Genic enhancers	Fetal Intestine Large	intestine
13	chr11:72482600-72489200	Enhancers	Fetal Muscle Leg	muscle
14	chr11:72484600-72491200	Weak transcription	Adipose Nuclei	Adipose
15	chr11:72484800-72491600	Weak transcription	Fetal Kidney	kidney
16	chr11:72485000-72490400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:72485000-72491600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:72485200-72489600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:72485400-72490600	Weak transcription	Small Intestine	intestine
20	chr11:72485400-72490800	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:72485400-72491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:72485400-72491000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:72485600-72492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:72485800-72491200	Weak transcription	Fetal Brain Male	brain
25	chr11:72486000-72489200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:72486200-72489800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
27	chr11:72486200-72490800	Weak transcription	Fetal Brain Female	brain
28	chr11:72486600-72491400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:72486800-72490600	Enhancers	Pancreas	Pancrea
30	chr11:72486800-72491200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:72487000-72489800	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:72487000-72490200	Enhancers	Spleen	Spleen
33	chr11:72487000-72490800	Weak transcription	NHEK	skin
34	chr11:72487000-72491000	Genic enhancers	Placenta Amnion	Placenta Amnion
35	chr11:72487000-72491600	Enhancers	Lung	lung
36	chr11:72487200-72489200	Enhancers	Brain Hippocampus Middle	brain
37	chr11:72487200-72489400	Enhancers	Left Ventricle	heart
38	chr11:72487200-72491400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr11:72487200-72491600	Enhancers	Brain Substantia Nigra	brain
40	chr11:72487400-72489800	Enhancers	Fetal Heart	heart
41	chr11:72487400-72490400	Enhancers	Brain Cingulate Gyrus	brain
42	chr11:72487400-72490400	Enhancers	Right Ventricle	heart
43	chr11:72487600-72489200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:72487600-72489400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:72487600-72489600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:72487600-72490000	Enhancers	Brain Angular Gyrus	brain
47	chr11:72487600-72490200	Enhancers	Placenta	Placenta
48	chr11:72487600-72491600	Enhancers	Brain Anterior Caudate	brain
49	chr11:72487800-72491600	Flanking Active TSS	HepG2	liver
50	chr11:72488000-72489200	Genic enhancers	Fetal Stomach	stomach

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