Variant report

Variant	rs7481059
Chromosome Location	chr11:17004484-17004485
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17004144..17005868-chr11:17008994..17011886,3	MCF-7	breast:
2	chr11:16996626..17000145-chr11:17001852..17005291,4	K562	blood:
3	chr11:17003043..17005299-chr11:17227966..17230584,3	MCF-7	breast:
4	chr11:16997178..16999092-chr11:17003135..17008712,4	MCF-7	breast:
5	chr11:16997842..17006545-chr11:17033236..17037894,15	MCF-7	breast:
6	chr11:16976871..16981000-chr11:17000472..17004649,3	MCF-7	breast:
7	chr11:16978219..16978915-chr11:17003760..17004740,5	MCF-7	breast:
8	chr11:16999245..17001608-chr11:17002120..17006650,5	MCF-7	breast:
9	chr11:16964831..16967704-chr11:17003456..17005667,3	MCF-7	breast:
10	chr11:17002569..17005587-chr11:17010572..17013703,3	K562	blood:
11	chr11:17001912..17011357-chr11:17032509..17037700,15	MCF-7	breast:
12	chr11:16978219..16978915-chr11:17003760..17004705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000011405	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000184669	Chromatin interaction
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10734250	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs10741719	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10741720	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10741721	0.84[EUR][1000 genomes]
rs10741722	0.87[EUR][1000 genomes]
rs10766370	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs10766371	0.87[EUR][1000 genomes]
rs10766372	0.87[EUR][1000 genomes]
rs10832713	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes]
rs10832715	0.84[EUR][1000 genomes]
rs10832716	0.87[EUR][1000 genomes]
rs10832717	0.87[EUR][1000 genomes]
rs10832718	0.87[EUR][1000 genomes]
rs10832720	0.87[EUR][1000 genomes]
rs10832721	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11024111	0.87[EUR][1000 genomes]
rs11605426	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12288625	0.87[EUR][1000 genomes]
rs12365483	0.87[EUR][1000 genomes]
rs12418132	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12808675	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1468489	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34437677	0.83[EUR][1000 genomes]
rs34502475	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34819854	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35115039	0.82[EUR][1000 genomes]
rs4351794	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4562807	0.87[EUR][1000 genomes]
rs4756881	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756882	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4756883	0.87[EUR][1000 genomes]
rs4757466	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757467	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4757479	0.96[EUR][1000 genomes]
rs4757482	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4757483	0.81[EUR][1000 genomes]
rs4757484	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4757485	0.87[EUR][1000 genomes]
rs4757486	0.87[EUR][1000 genomes]
rs4757487	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4757488	0.87[EUR][1000 genomes]
rs4757489	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4757490	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs4757491	0.87[EUR][1000 genomes]
rs4757492	0.87[EUR][1000 genomes]
rs4757493	0.87[EUR][1000 genomes]
rs61881287	0.90[EUR][1000 genomes]
rs61881311	0.87[EUR][1000 genomes]
rs6486332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486335	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes]
rs6486336	0.87[EUR][1000 genomes]
rs6486337	0.87[EUR][1000 genomes]
rs6486339	0.87[EUR][1000 genomes]
rs6486340	0.85[EUR][1000 genomes]
rs6486341	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs6486342	0.87[EUR][1000 genomes]
rs6486343	0.87[EUR][1000 genomes]
rs6486344	0.87[EUR][1000 genomes]
rs7101679	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117262	0.87[EUR][1000 genomes]
rs71484746	0.83[EUR][1000 genomes]
rs7926143	0.84[EUR][1000 genomes]
rs7928955	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7929923	0.83[EUR][1000 genomes]
rs7930890	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7931025	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7933984	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7937479	0.98[EUR][1000 genomes]
rs7940499	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7947297	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7947897	0.86[EUR][1000 genomes]
rs973323	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs992698	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv983149	chr11:17003386-17011615	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16992200-17007400	Weak transcription	Colonic Mucosa	Colon
2	chr11:16997600-17004600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:16998000-17005000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:16998000-17009000	Enhancers	Stomach Mucosa	stomach
5	chr11:16998000-17011800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:16998800-17007800	Genic enhancers	Fetal Intestine Small	intestine
7	chr11:17000600-17004600	Enhancers	Fetal Intestine Large	intestine
8	chr11:17000600-17011800	Enhancers	Pancreas	Pancrea
9	chr11:17000800-17006200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:17001200-17004600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:17001200-17004800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:17001400-17004800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:17001400-17005000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:17001400-17005200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:17001400-17005200	Enhancers	Brain Angular Gyrus	brain
16	chr11:17001400-17005400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:17001400-17010600	Enhancers	Placenta	Placenta
18	chr11:17001600-17005200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:17001800-17006600	Weak transcription	Liver	Liver
20	chr11:17002000-17004800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr11:17002000-17006000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:17002600-17004800	Enhancers	Fetal Muscle Leg	muscle
23	chr11:17002600-17005000	Enhancers	Fetal Kidney	kidney
24	chr11:17002800-17004800	Enhancers	Fetal Heart	heart
25	chr11:17002800-17005000	Enhancers	Right Atrium	heart
26	chr11:17003000-17004600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:17003000-17004800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:17003000-17004800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:17003000-17009800	Enhancers	Brain Substantia Nigra	brain
30	chr11:17003200-17004600	Enhancers	Left Ventricle	heart
31	chr11:17003200-17004600	Enhancers	Lung	lung
32	chr11:17003200-17004600	Enhancers	A549	lung
33	chr11:17003200-17005400	Enhancers	Gastric	stomach
34	chr11:17003400-17006000	Weak transcription	Esophagus	oesophagus
35	chr11:17003400-17006000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:17003600-17005000	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:17003600-17005600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:17003600-17007800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:17003600-17009800	Enhancers	Brain Anterior Caudate	brain
40	chr11:17003800-17004800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:17003800-17004800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr11:17003800-17005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:17004000-17004600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:17004000-17005400	Enhancers	Brain Hippocampus Middle	brain
45	chr11:17004000-17006400	Enhancers	Brain Cingulate Gyrus	brain
46	chr11:17004000-17007400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:17004000-17007600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:17004000-17008000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:17004000-17008200	Weak transcription	Adipose Nuclei	Adipose
50	chr11:17004000-17008200	Weak transcription	Placenta Amnion	Placenta Amnion

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