Variant report

Variant	rs214091
Chromosome Location	chr11:17296463-17296464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17097070..17101102-chr11:17296326..17299484,3	K562	blood:
2	chr11:17289393..17293255-chr11:17296129..17299283,5	K562	blood:
3	chr11:17290835..17293391-chr11:17295443..17297735,3	K562	blood:
4	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:
5	chr11:17286631..17289597-chr11:17295588..17297647,2	MCF-7	breast:
6	chr11:17279766..17282636-chr11:17296129..17298031,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188211	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000201403	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12577388	0.82[JPT][hapmap];0.85[TSI][hapmap]
rs12577418	0.82[JPT][hapmap]
rs12577525	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12577815	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1330	0.80[JPT][hapmap]
rs17473243	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17560341	0.82[JPT][hapmap];0.85[TSI][hapmap]
rs17561348	0.81[CHB][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.85[TSI][hapmap]
rs1987694	0.82[JPT][hapmap]
rs2051773	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs2074314	1.00[LWK][hapmap]
rs214070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs214072	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs214086	0.96[ASN][1000 genomes]
rs214090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214098	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214105	0.87[CEU][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap]
rs214933	0.85[TSI][hapmap]
rs2521999	0.86[CEU][hapmap];0.83[JPT][hapmap]
rs3950680	0.88[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.85[TSI][hapmap]
rs55948574	0.82[AMR][1000 genomes]
rs60173525	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61881877	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61881881	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs644419	0.81[CHB][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs757081	0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap]
rs757110	1.00[LWK][hapmap]
rs7928810	1.00[LWK][hapmap]

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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1836937	chr11:17291499-17339127	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs214091	PDE3B	cis	parietal	SCAN
rs214091	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs214091	SERGEF	cis	parietal	SCAN
rs214091	TSG101	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17286000-17297200	Weak transcription	A549	lung
2	chr11:17286000-17297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:17293800-17297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:17294000-17297000	Enhancers	Dnd41	blood
5	chr11:17294200-17297400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:17294200-17297400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:17294200-17297600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:17294400-17297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:17294400-17297400	Enhancers	Fetal Thymus	thymus
10	chr11:17294400-17297600	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:17294600-17297400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:17294600-17297600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:17294600-17297600	Weak transcription	Aorta	Aorta
14	chr11:17294600-17297600	Weak transcription	HMEC	breast
15	chr11:17294800-17297000	Weak transcription	Fetal Kidney	kidney
16	chr11:17294800-17297400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:17294800-17297600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:17295000-17297200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:17295000-17297400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:17295000-17297400	Weak transcription	NHEK	skin
21	chr11:17295000-17297600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr11:17295000-17297600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:17295200-17297000	Enhancers	HepG2	liver
24	chr11:17295400-17297000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:17295400-17297400	Enhancers	K562	blood
26	chr11:17295400-17297600	Enhancers	Placenta	Placenta
27	chr11:17295600-17297000	Weak transcription	Hela-S3	cervix
28	chr11:17295600-17297200	Enhancers	Thymus	Thymus
29	chr11:17295600-17297400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr11:17295800-17296800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:17295800-17296800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:17295800-17297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:17295800-17297400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:17295800-17297400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:17295800-17297600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:17295800-17297600	Weak transcription	Esophagus	oesophagus
37	chr11:17296200-17297400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:17296400-17297400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr11:17296400-17297400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr11:17296400-17297600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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