Variant report

Variant	rs12223138
Chromosome Location	chr11:77046259-77046260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1037452	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10501425	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10899372	1.00[ASN][1000 genomes]
rs10899373	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899377	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11237190	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11237198	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11237200	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11820118	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11828786	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1237490	0.81[ASN][1000 genomes]
rs12420360	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12421190	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1453341	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17135670	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17135689	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2100393	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2467481	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602460	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2602461	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2602462	0.87[ASN][1000 genomes]
rs2602466	0.88[ASN][1000 genomes]
rs2602471	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2602472	0.85[AFR][1000 genomes]
rs2602473	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2602474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602475	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602481	0.89[AMR][1000 genomes]
rs2725829	0.92[ASN][1000 genomes]
rs2725834	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2729749	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2729750	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2729751	0.89[ASN][1000 genomes]
rs2729752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2729756	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2729757	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2729763	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2729775	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2844327	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844335	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2852381	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2852383	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2852388	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2852389	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2852390	0.80[ASN][1000 genomes]
rs2853084	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2853085	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2853089	0.81[AMR][1000 genomes]
rs2853091	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2853095	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2853098	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2888377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4092275	0.87[ASN][1000 genomes]
rs4944159	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944160	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57305199	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57440754	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592721	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7105662	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7112264	0.82[ASN][1000 genomes]
rs724369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs733358	0.85[AMR][1000 genomes]
rs745458	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7944289	0.82[ASN][1000 genomes]
rs876319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs896841	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs947809	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs947810	0.87[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
3	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:77030800-77046800	Weak transcription	Small Intestine	intestine
5	chr11:77030800-77054200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:77031600-77046600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:77031600-77066400	Weak transcription	Gastric	stomach
8	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
9	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
10	chr11:77032200-77066400	Weak transcription	Lung	lung
11	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:77033600-77046800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:77034400-77047000	Weak transcription	Left Ventricle	heart
16	chr11:77034400-77054600	Weak transcription	Pancreas	Pancrea
17	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
18	chr11:77034400-77086200	Weak transcription	NHLF	lung
19	chr11:77034600-77046800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:77034600-77047000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:77034600-77051600	Weak transcription	Brain Anterior Caudate	brain
22	chr11:77034800-77047200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
24	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:77035000-77046600	Weak transcription	A549	lung
26	chr11:77036200-77046800	Weak transcription	HMEC	breast
27	chr11:77037600-77051600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:77037800-77046400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:77041800-77056600	Weak transcription	HSMMtube	muscle
30	chr11:77042600-77047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:77042600-77048600	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:77042600-77049200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:77042600-77053600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:77042800-77048600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr11:77043000-77048000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:77043000-77048600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:77043000-77048600	Strong transcription	Fetal Intestine Large	intestine
39	chr11:77043000-77048600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr11:77043000-77048800	Strong transcription	Primary T cells from cord blood	blood
41	chr11:77043000-77048800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:77043000-77049200	Strong transcription	Placenta	Placenta
43	chr11:77043000-77049800	Strong transcription	Adipose Nuclei	Adipose
44	chr11:77043000-77051600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:77043000-77056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:77043000-77061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:77043200-77047200	Weak transcription	Aorta	Aorta
48	chr11:77043200-77048600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:77043200-77048600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:77043200-77055400	Strong transcription	Rectal Mucosa Donor 29	rectum

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