Variant report

Variant	rs11042580
Chromosome Location	chr11:10000210-10000211
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10743123	0.85[EUR][1000 genomes]
rs10770077	0.84[EUR][1000 genomes]
rs10770078	0.83[EUR][1000 genomes]
rs10840330	0.85[EUR][1000 genomes]
rs10840333	0.86[EUR][1000 genomes]
rs10840334	0.85[EUR][1000 genomes]
rs10840337	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10840338	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10840344	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042559	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042561	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042571	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11042573	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11042579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042593	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042595	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11042601	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042609	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042615	0.81[EUR][1000 genomes]
rs11042618	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11042623	0.81[EUR][1000 genomes]
rs11042641	0.81[EUR][1000 genomes]
rs11600251	0.81[EUR][1000 genomes]
rs11602465	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11603440	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11606561	0.81[EUR][1000 genomes]
rs11607682	0.81[EUR][1000 genomes]
rs11607703	0.81[EUR][1000 genomes]
rs12290996	0.87[EUR][1000 genomes]
rs12362938	0.81[EUR][1000 genomes]
rs12364676	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12418212	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12418619	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12419923	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12420734	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12420950	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12421096	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421179	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12421200	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12421931	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17271847	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17356792	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2403226	0.87[EUR][1000 genomes]
rs2403227	0.88[EUR][1000 genomes]
rs2403229	0.88[EUR][1000 genomes]
rs28731164	0.81[EUR][1000 genomes]
rs4576815	0.88[EUR][1000 genomes]
rs4909917	0.86[EUR][1000 genomes]
rs4910086	0.88[EUR][1000 genomes]
rs61876943	0.81[AMR][1000 genomes]
rs61877048	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61877049	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61878582	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61878587	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61878622	0.81[EUR][1000 genomes]
rs61878636	0.81[EUR][1000 genomes]
rs7114044	0.85[EUR][1000 genomes]
rs7123820	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7131445	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7928959	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7938502	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7938647	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7947306	0.81[EUR][1000 genomes]
rs7950447	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv896988	chr11:9912052-10012511	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv896989	chr11:9951968-10059623	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv1819684	chr11:9973062-10012511	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9973800-10010600	Weak transcription	Fetal Brain Male	brain
2	chr11:9981000-10020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:9981200-10004200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:9981200-10009200	Weak transcription	Brain Germinal Matrix	brain
5	chr11:9981400-10002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:9981400-10003400	Weak transcription	Brain Anterior Caudate	brain
7	chr11:9981400-10003400	Weak transcription	NHEK	skin
8	chr11:9981400-10003600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:9981400-10004200	Weak transcription	Esophagus	oesophagus
10	chr11:9981400-10004200	Weak transcription	Lung	lung
11	chr11:9981400-10004400	Weak transcription	HepG2	liver
12	chr11:9981400-10008800	Weak transcription	Primary T cells from cord blood	blood
13	chr11:9981400-10010200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:9981400-10014800	Weak transcription	Dnd41	blood
15	chr11:9981400-10017000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
17	chr11:9981600-10003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:9981800-10003400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:9981800-10004800	Weak transcription	Ovary	ovary
20	chr11:9983600-10004800	Weak transcription	Fetal Lung	lung
21	chr11:9983600-10023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:9984600-10010200	Weak transcription	Fetal Kidney	kidney
23	chr11:9985800-10000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:9985800-10004000	Weak transcription	Placenta	Placenta
25	chr11:9985800-10004200	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:9985800-10004400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:9985800-10021600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:9985800-10023600	Weak transcription	Primary B cells from cord blood	blood
29	chr11:9985800-10049000	Weak transcription	Left Ventricle	heart
30	chr11:9986000-10006000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:9987200-10003600	Weak transcription	Hela-S3	cervix
32	chr11:9987600-10002600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:9989400-10004000	Weak transcription	Fetal Stomach	stomach
34	chr11:9990000-10002600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:9990000-10004800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:9990000-10012600	Weak transcription	Liver	Liver
37	chr11:9990000-10018200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:9990200-10006200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:9990400-10028200	Weak transcription	Fetal Brain Female	brain
40	chr11:9990600-10003800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:9991200-10060000	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:9994800-10041800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:9995000-10003600	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:9995000-10008800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:9995400-10004200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:9996000-10004200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:9996000-10024600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr11:9996200-10002400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr11:9997600-10000400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:9998800-10000600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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