Variant report

Variant	rs2853097
Chromosome Location	chr11:77043120-77043121
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10793248	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11600983	0.83[EUR][1000 genomes]
rs11607378	0.87[EUR][1000 genomes]
rs1225479	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2007466	0.86[EUR][1000 genomes]
rs2602472	0.80[ASN][1000 genomes]
rs2725812	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3015984	0.90[EUR][1000 genomes]
rs3015989	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015991	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3015993	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3019240	0.90[EUR][1000 genomes]
rs3019258	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34420077	0.86[EUR][1000 genomes]
rs4433591	0.88[EUR][1000 genomes]
rs473012	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs476925	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs478134	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs478475	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs482243	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs487322	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs489038	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs491781	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs492527	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944153	0.82[EUR][1000 genomes]
rs4944155	0.87[EUR][1000 genomes]
rs4944158	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4945162	0.82[EUR][1000 genomes]
rs4945166	0.87[EUR][1000 genomes]
rs4945169	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs495889	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs497172	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs497946	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs499880	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs500731	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs514191	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs517511	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs538670	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs539906	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs556696	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs561153	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs562939	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs568309	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57129983	0.87[EUR][1000 genomes]
rs575662	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs576079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576997	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs584909	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs599437	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs605910	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs614775	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs618012	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61901769	0.86[EUR][1000 genomes]
rs61901771	0.84[EUR][1000 genomes]
rs61901802	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs628325	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs635291	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs639857	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592714	0.84[EUR][1000 genomes]
rs6592715	0.89[EUR][1000 genomes]
rs667331	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs683497	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs688212	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7118869	0.93[EUR][1000 genomes]
rs7928731	0.87[EUR][1000 genomes]
rs98703	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];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:115 , 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	chr11:77032600-77043200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:77032600-77046200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:77033600-77046800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:77033800-77045200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:77034400-77043400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:77034400-77043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:77034400-77044600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:77034400-77045000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:77034400-77047000	Weak transcription	Left Ventricle	heart
23	chr11:77034400-77054600	Weak transcription	Pancreas	Pancrea
24	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
25	chr11:77034400-77086200	Weak transcription	NHLF	lung
26	chr11:77034600-77043600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:77034600-77045400	Weak transcription	Osteobl	bone
28	chr11:77034600-77046800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:77034600-77047000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:77034600-77051600	Weak transcription	Brain Anterior Caudate	brain
31	chr11:77034800-77047200	Weak transcription	Brain Angular Gyrus	brain
32	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
33	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:77035000-77046600	Weak transcription	A549	lung
35	chr11:77035200-77043600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:77036200-77043400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:77036200-77046800	Weak transcription	HMEC	breast
38	chr11:77036400-77043600	Weak transcription	Stomach Mucosa	stomach
39	chr11:77037600-77045400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:77037600-77045800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:77037600-77051600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:77037800-77043200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:77037800-77044000	Weak transcription	Primary B cells from cord blood	blood
44	chr11:77037800-77045400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:77037800-77046400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:77041800-77056600	Weak transcription	HSMMtube	muscle
47	chr11:77042000-77043800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:77042600-77043200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:77042600-77043200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr11:77042600-77043400	ZNF genes & repeats	Fetal Intestine Small	intestine

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