Variant report

Variant	rs11042593
Chromosome Location	chr11:10046945-10046946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10840337	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840338	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840344	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840359	0.87[EUR][1000 genomes]
rs10840375	0.80[EUR][1000 genomes]
rs11042559	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11042561	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11042571	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042578	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042579	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042580	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042595	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042601	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042609	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042615	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042618	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042623	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042627	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042632	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11042641	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11600251	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11600489	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11602465	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11603440	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606561	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11607682	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607703	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360783	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12362938	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417184	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12418212	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418619	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12419923	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420734	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12420950	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421096	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12421179	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421200	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421931	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372807	0.84[EUR][1000 genomes]
rs1442737	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17271847	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356792	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359113	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1867135	0.82[EUR][1000 genomes]
rs2403292	0.84[EUR][1000 genomes]
rs28731164	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34683105	0.84[EUR][1000 genomes]
rs4281477	0.84[EUR][1000 genomes]
rs4478985	0.84[EUR][1000 genomes]
rs4529876	0.85[EUR][1000 genomes]
rs4910095	0.84[EUR][1000 genomes]
rs4910098	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56853694	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61877048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61877049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878582	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878587	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878622	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878636	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114303	0.85[EUR][1000 genomes]
rs7123453	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7123820	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131445	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924875	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7928959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931804	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935934	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7938491	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7938502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938788	0.84[EUR][1000 genomes]
rs7945980	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7946995	0.87[EUR][1000 genomes]
rs7947306	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7948215	0.81[EUR][1000 genomes]
rs7950447	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	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	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
3	nsv553475	chr11:10019879-10059623	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv553476	chr11:10024311-10117435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9981400-10051600	Weak transcription	Aorta	Aorta
2	chr11:9985800-10049000	Weak transcription	Left Ventricle	heart
3	chr11:9991200-10060000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:10001400-10066200	Weak transcription	Pancreas	Pancrea
5	chr11:10004200-10048600	Weak transcription	Brain Angular Gyrus	brain
6	chr11:10010600-10051200	Weak transcription	Ovary	ovary
7	chr11:10012600-10049000	Weak transcription	Fetal Kidney	kidney
8	chr11:10024200-10047800	Weak transcription	Osteobl	bone
9	chr11:10024800-10054000	Weak transcription	Hela-S3	cervix
10	chr11:10030600-10047000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:10030600-10051400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:10030600-10054000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:10030600-10065800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:10032800-10049200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:10034000-10047000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:10034400-10047800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:10035200-10065800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:10035400-10051200	Weak transcription	Psoas Muscle	Psoas
19	chr11:10035800-10052800	Weak transcription	Spleen	Spleen
20	chr11:10036000-10049000	Weak transcription	Placenta	Placenta
21	chr11:10036000-10055600	Weak transcription	NHEK	skin
22	chr11:10036200-10047800	Weak transcription	NHLF	lung
23	chr11:10036200-10062800	Weak transcription	Adipose Nuclei	Adipose
24	chr11:10037600-10048000	Weak transcription	Fetal Stomach	stomach
25	chr11:10037600-10049400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:10038000-10047800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:10038200-10047600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:10039400-10047400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:10040400-10065800	Weak transcription	HSMM	muscle
30	chr11:10040600-10049400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:10042000-10048800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:10042000-10052200	Weak transcription	Esophagus	oesophagus
33	chr11:10042000-10052800	Weak transcription	Lung	lung
34	chr11:10042000-10053400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:10042000-10055800	Weak transcription	HMEC	breast
36	chr11:10042200-10048400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:10042200-10049400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:10042200-10049600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:10042200-10054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:10042200-10064400	Weak transcription	Fetal Intestine Small	intestine
41	chr11:10042200-10066000	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:10042200-10066000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:10042200-10066200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:10042400-10047000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:10042400-10047600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:10042400-10048800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:10042600-10066000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:10042800-10054200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:10043400-10047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:10043400-10049400	Weak transcription	Primary T cells fromperipheralblood	blood

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