Variant report

Variant	rs494289
Chromosome Location	chr11:77037035-77037036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs11237123	1.00[JPT][hapmap]
rs11237141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11237142	0.91[ASN][1000 genomes]
rs11237148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11237150	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11237151	0.91[ASN][1000 genomes]
rs11237160	0.80[AMR][1000 genomes]
rs11237162	0.87[AMR][1000 genomes]
rs11237164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1125619	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11512967	0.83[ASN][1000 genomes]
rs1225478	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12363707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12363842	0.91[ASN][1000 genomes]
rs12363944	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12366261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1237490	0.87[EUR][1000 genomes]
rs12794253	0.91[ASN][1000 genomes]
rs1377472	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1597954	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1622364	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1670446	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1670449	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1670450	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1670456	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1670458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1670461	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17824184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1793468	0.91[ASN][1000 genomes]
rs1793471	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1793472	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1793487	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1793490	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2156567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2602476	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602483	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2602487	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2725822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2725825	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2725828	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015982	0.88[EUR][1000 genomes]
rs3015983	0.86[EUR][1000 genomes]
rs3015985	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs3015986	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3015988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3015990	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3015992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs3019233	0.87[EUR][1000 genomes]
rs3019234	0.87[EUR][1000 genomes]
rs3019235	0.87[EUR][1000 genomes]
rs3019236	0.87[EUR][1000 genomes]
rs3019257	0.86[EUR][1000 genomes]
rs34025917	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34880271	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375461	0.91[ASN][1000 genomes]
rs472691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs476258	0.85[EUR][1000 genomes]
rs479104	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs493256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945150	1.00[JPT][hapmap]
rs503406	0.88[EUR][1000 genomes]
rs505841	0.84[EUR][1000 genomes]
rs508662	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs51500	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520938	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs522015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523481	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs531638	0.83[EUR][1000 genomes]
rs535008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs552323	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557484	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs558470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs560571	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs561386	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs562845	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs563731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs572485	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs576220	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs580624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs592602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs595654	0.83[EUR][1000 genomes]
rs598801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644551	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs649040	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653792	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66518011	0.88[ASN][1000 genomes]
rs66540426	0.91[ASN][1000 genomes]
rs66728428	0.91[ASN][1000 genomes]
rs674259	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs683455	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs683762	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684793	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs686068	1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689108	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7118943	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7934230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7949721	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs883224	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs883680	0.91[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	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

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77025400-77037600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:77027400-77043000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:77027600-77043000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
6	chr11:77028400-77043000	Weak transcription	Fetal Lung	lung
7	chr11:77030400-77043000	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:77030800-77046800	Weak transcription	Small Intestine	intestine
10	chr11:77030800-77054200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:77031200-77043000	Weak transcription	Colonic Mucosa	Colon
12	chr11:77031400-77037200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:77031400-77037600	Strong transcription	Primary T cells from cord blood	blood
14	chr11:77031600-77037800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:77031600-77046600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:77031600-77066400	Weak transcription	Gastric	stomach
17	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
18	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
19	chr11:77032000-77037600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:77032000-77037800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:77032000-77037800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:77032000-77038000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:77032000-77038000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:77032000-77038000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:77032200-77037800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:77032200-77066400	Weak transcription	Lung	lung
27	chr11:77032400-77037800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:77032400-77043000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:77032600-77037600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:77032600-77037800	Strong transcription	Placenta	Placenta
31	chr11:77032600-77043200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:77032600-77046200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:77032800-77037800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:77033000-77037800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:77033000-77038000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:77033200-77037800	Strong transcription	Fetal Stomach	stomach
37	chr11:77033200-77037800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:77033400-77037600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:77033400-77037600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:77033600-77046800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:77033800-77037200	Weak transcription	Liver	Liver
44	chr11:77033800-77043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:77033800-77043000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:77033800-77043000	Weak transcription	Esophagus	oesophagus
47	chr11:77033800-77043000	Weak transcription	NHEK	skin
48	chr11:77033800-77045200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:77034000-77043000	Weak transcription	Brain Germinal Matrix	brain

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