Variant report

Variant	rs17135670
Chromosome Location	chr11:77166977-77166978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1037452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10501425	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10899372	0.81[ASN][1000 genomes]
rs10899373	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10899377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11237190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11237198	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11237200	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11820118	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11828786	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12223138	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12420360	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12421190	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1453341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17135689	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2100393	0.82[AMR][1000 genomes]
rs2467481	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2602460	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2602461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602462	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602471	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2602472	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs2602473	0.89[ASN][1000 genomes]
rs2602474	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2602475	0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2602481	0.82[AMR][1000 genomes]
rs2725829	0.89[ASN][1000 genomes]
rs2725834	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2729749	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2729750	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2729751	0.91[ASN][1000 genomes]
rs2729752	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2729756	0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2729757	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729763	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2729775	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2844327	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2844335	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2852381	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852383	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2852388	0.91[ASN][1000 genomes]
rs2852389	0.97[ASN][1000 genomes]
rs2852390	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2853084	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2853085	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2853089	0.81[AMR][1000 genomes]
rs2853091	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2853095	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2853098	0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2888377	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3019249	0.83[AFR][1000 genomes]
rs4092275	0.91[ASN][1000 genomes]
rs4944159	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4944160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57305199	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57440754	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6592721	0.97[ASN][1000 genomes]
rs7105662	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7112264	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7120719	0.81[AMR][1000 genomes]
rs724369	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7944289	0.97[ASN][1000 genomes]
rs876319	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs896841	0.89[AMR][1000 genomes]
rs947809	0.92[ASN][1000 genomes]
rs947810	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv3424135	chr11:76961603-77277087	Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1037724	chr11:77061945-77250391	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541091	chr11:77061945-77250391	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3437433	chr11:77101280-77291686	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77153600-77168600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:77155400-77181400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:77157000-77168400	Weak transcription	Small Intestine	intestine
4	chr11:77158200-77168600	Weak transcription	Stomach Mucosa	stomach
5	chr11:77158400-77169800	Weak transcription	Fetal Intestine Large	intestine
6	chr11:77159800-77168400	Weak transcription	Fetal Brain Female	brain
7	chr11:77160200-77169400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:77160600-77178000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:77160800-77167000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:77161000-77170200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:77161200-77167400	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:77161200-77179200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:77162400-77167000	Weak transcription	Primary B cells from cord blood	blood
14	chr11:77162400-77167200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:77162400-77167400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:77162400-77168000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:77163000-77173400	Weak transcription	Placenta	Placenta
18	chr11:77164000-77169800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:77165000-77168200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr11:77165000-77172200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:77165200-77170800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:77165400-77168200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:77165600-77167000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:77165600-77168200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:77165600-77168200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr11:77165800-77168600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr11:77165800-77171200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:77166000-77167600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr11:77166000-77167800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:77166000-77168400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:77166200-77167600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:77166200-77172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:77166400-77167000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:77166600-77168400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:77166600-77168400	Weak transcription	Brain Germinal Matrix	brain
36	chr11:77166600-77168400	Weak transcription	Psoas Muscle	Psoas
37	chr11:77166800-77167400	Enhancers	Fetal Intestine Small	intestine
38	chr11:77166800-77168200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:77166800-77169000	Enhancers	Primary hematopoietic stem cells	blood
40	chr11:77166800-77169200	Flanking Active TSS	GM12878-XiMat	blood

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