Variant report

Variant	rs214093
Chromosome Location	chr11:17294788-17294789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17293894..17295404-chr11:17299540..17302043,2	K562	blood:
2	chr11:17260848..17261450-chr11:17294076..17295035,3	MCF-7	breast:
3	chr11:17260848..17261373-chr11:17294457..17295035,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs105290	0.89[ASN][1000 genomes]
rs10741724	0.80[ASN][1000 genomes]
rs10741725	0.92[YRI][hapmap]
rs10766381	0.88[ASN][1000 genomes]
rs10766382	0.84[ASN][1000 genomes]
rs10832733	0.92[JPT][hapmap]
rs10832745	0.86[ASN][1000 genomes]
rs10832746	0.86[ASN][1000 genomes]
rs10832747	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs10832748	0.82[ASN][1000 genomes]
rs10832750	0.82[ASN][1000 genomes]
rs10832752	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs11024148	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs11024158	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs11024204	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11024207	0.88[ASN][1000 genomes]
rs11024208	0.88[ASN][1000 genomes]
rs11024220	0.84[ASN][1000 genomes]
rs11024221	0.84[ASN][1000 genomes]
rs11024223	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs11024229	0.86[ASN][1000 genomes]
rs11024231	0.86[ASN][1000 genomes]
rs1125737	0.82[ASN][1000 genomes]
rs12276859	0.84[ASN][1000 genomes]
rs12280930	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs12286505	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs1488933	0.84[ASN][1000 genomes]
rs190046	0.89[ASN][1000 genomes]
rs1979603	0.93[ASN][1000 genomes]
rs214068	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs214069	0.82[ASN][1000 genomes]
rs214071	0.93[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.83[ASN][1000 genomes]
rs214075	0.92[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs214076	0.84[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs214077	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs214079	0.88[ASN][1000 genomes]
rs214080	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs214081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214085	0.86[ASN][1000 genomes]
rs214087	0.90[ASN][1000 genomes]
rs214088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs214092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214094	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214095	0.87[ASN][1000 genomes]
rs214097	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs214099	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs214101	0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs214102	0.86[ASN][1000 genomes]
rs214106	0.92[YRI][hapmap]
rs214900	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs214901	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs214909	0.84[ASN][1000 genomes]
rs214910	1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs214913	0.82[ASN][1000 genomes]
rs214914	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs214915	0.84[ASN][1000 genomes]
rs214916	0.84[ASN][1000 genomes]
rs214918	0.84[ASN][1000 genomes]
rs214919	0.84[ASN][1000 genomes]
rs214920	0.84[ASN][1000 genomes]
rs214921	0.84[ASN][1000 genomes]
rs214922	0.84[ASN][1000 genomes]
rs214925	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs214935	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs214936	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs214939	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs214940	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2171615	0.82[ASN][1000 genomes]
rs4356203	0.92[JPT][hapmap]
rs4508187	0.84[ASN][1000 genomes]
rs4509731	0.85[ASN][1000 genomes]
rs512852	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs603618	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs61357262	0.83[ASN][1000 genomes]
rs615358	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs618331	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs677540	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7101686	0.82[ASN][1000 genomes]
rs7108315	0.84[ASN][1000 genomes]
rs7108316	0.80[ASN][1000 genomes]
rs7118443	0.81[ASN][1000 genomes]
rs7123301	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs7125607	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs7128822	0.84[ASN][1000 genomes]
rs7342262	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs7925692	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs7937176	0.90[ASN][1000 genomes]
rs7940253	0.80[ASN][1000 genomes]
rs7949699	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs214093	OR7E14P	cis	Esophagus Mucosa	GTEx
rs214093	NUCB2	cis	multi-tissue	Pritchard
rs214093	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs214093	OR7E14P	cis	Nerve Tibial	GTEx
rs214093	NUCB2	cis	Lymphoblastoid	GTEx

Chromatin state (count:35 , 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	chr11:17289200-17295400	Weak transcription	Placenta	Placenta
4	chr11:17289400-17295400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr11:17290800-17295400	Weak transcription	K562	blood
6	chr11:17293800-17297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:17294000-17297000	Enhancers	Dnd41	blood
8	chr11:17294200-17295000	Enhancers	NHEK	skin
9	chr11:17294200-17297400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:17294200-17297400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:17294200-17297600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:17294400-17294800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:17294400-17294800	Enhancers	Fetal Kidney	kidney
14	chr11:17294400-17294800	Flanking Active TSS	Hela-S3	cervix
15	chr11:17294400-17294800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr11:17294400-17295000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:17294400-17295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:17294400-17295000	Enhancers	Thymus	Thymus
19	chr11:17294400-17295200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:17294400-17295800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:17294400-17295800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:17294400-17295800	Enhancers	Esophagus	oesophagus
23	chr11:17294400-17297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:17294400-17297400	Enhancers	Fetal Thymus	thymus
25	chr11:17294400-17297600	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:17294600-17294800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:17294600-17294800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr11:17294600-17294800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr11:17294600-17294800	Enhancers	NHLF	lung
30	chr11:17294600-17295000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:17294600-17295200	Flanking Active TSS	HepG2	liver
32	chr11:17294600-17297400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:17294600-17297600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:17294600-17297600	Weak transcription	Aorta	Aorta
35	chr11:17294600-17297600	Weak transcription	HMEC	breast

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