Variant report

Variant	rs2602487
Chromosome Location	chr11:77026603-77026604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11237141	0.96[ASN][1000 genomes]
rs11237142	0.96[ASN][1000 genomes]
rs11237148	0.96[ASN][1000 genomes]
rs11237150	0.96[ASN][1000 genomes]
rs11237151	0.96[ASN][1000 genomes]
rs11237164	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125619	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1225478	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12361757	0.96[ASN][1000 genomes]
rs12363707	0.96[ASN][1000 genomes]
rs12363842	0.96[ASN][1000 genomes]
rs12366261	0.92[ASN][1000 genomes]
rs1237490	0.85[EUR][1000 genomes]
rs12794253	0.96[ASN][1000 genomes]
rs1377472	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1597954	0.88[ASN][1000 genomes]
rs1622364	0.96[ASN][1000 genomes]
rs1670446	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670449	0.96[ASN][1000 genomes]
rs1670450	0.96[ASN][1000 genomes]
rs1670456	0.96[ASN][1000 genomes]
rs1670458	0.96[ASN][1000 genomes]
rs1670461	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670462	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824184	0.96[ASN][1000 genomes]
rs1793468	0.96[ASN][1000 genomes]
rs1793471	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1793472	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1793487	0.96[ASN][1000 genomes]
rs1793490	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2156567	0.96[ASN][1000 genomes]
rs2602476	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602483	0.96[ASN][1000 genomes]
rs2725820	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725822	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725825	0.96[ASN][1000 genomes]
rs2725828	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015982	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3015983	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3015985	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3015986	0.83[EUR][1000 genomes]
rs3015988	0.83[EUR][1000 genomes]
rs3015990	0.83[EUR][1000 genomes]
rs3015992	0.83[AMR][1000 genomes]
rs3019233	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3019234	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3019235	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3019236	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3019257	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34880271	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375461	0.96[ASN][1000 genomes]
rs472691	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs476258	0.83[EUR][1000 genomes]
rs479104	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs493256	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs494289	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs503406	0.86[EUR][1000 genomes]
rs505841	0.82[EUR][1000 genomes]
rs508662	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs51500	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs520938	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs522015	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs523481	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs531638	0.81[EUR][1000 genomes]
rs535008	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs552323	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs557484	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs558470	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs560571	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs561386	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs562845	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs563731	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs572485	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576220	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs580624	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs592602	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595654	0.81[EUR][1000 genomes]
rs598801	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644551	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs649040	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs653792	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs657269	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs66518011	0.92[ASN][1000 genomes]
rs66540426	0.96[ASN][1000 genomes]
rs66728428	0.96[ASN][1000 genomes]
rs674259	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs683455	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs683762	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684793	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs686068	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs689108	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7934230	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7949721	0.82[EUR][1000 genomes]
rs883680	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv975950	chr11:77023974-77027331	Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77015200-77027600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr11:77020800-77032000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:77020800-77033200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:77021000-77032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:77022400-77032000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:77024800-77032000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:77025000-77033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:77025000-77033000	Weak transcription	HSMMtube	muscle
9	chr11:77025000-77033000	Weak transcription	NHLF	lung
10	chr11:77025000-77033200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:77025000-77033200	Weak transcription	NHDF-Ad	bronchial
12	chr11:77025000-77033400	Weak transcription	NH-A	brain
13	chr11:77025000-77034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:77025400-77027600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:77025400-77033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:77025400-77037600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:77026200-77027200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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