Variant report

Variant	rs58248240
Chromosome Location	chr11:16065856-16065857
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16061504..16063486-chr11:16064879..16066876,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1074953	1.00[EUR][1000 genomes]
rs11023752	1.00[EUR][1000 genomes]
rs12099171	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932474	1.00[EUR][1000 genomes]
rs16932477	1.00[EUR][1000 genomes]
rs16932507	1.00[EUR][1000 genomes]
rs16932558	1.00[EUR][1000 genomes]
rs55776402	1.00[EUR][1000 genomes]
rs55797092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55836990	1.00[EUR][1000 genomes]
rs56003030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56013327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56039367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56077417	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56110890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56214661	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56336701	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56339948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56395489	1.00[EUR][1000 genomes]
rs56710873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57058857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57059428	1.00[EUR][1000 genomes]
rs57534454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57594599	1.00[EUR][1000 genomes]
rs58385655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58476737	1.00[EUR][1000 genomes]
rs59156755	1.00[EUR][1000 genomes]
rs59237138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59275453	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59355840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59732810	1.00[EUR][1000 genomes]
rs59749270	1.00[EUR][1000 genomes]
rs60041887	1.00[EUR][1000 genomes]
rs60082792	1.00[EUR][1000 genomes]
rs60488672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60693734	1.00[EUR][1000 genomes]
rs60695570	1.00[EUR][1000 genomes]
rs60855295	1.00[EUR][1000 genomes]
rs60900176	1.00[EUR][1000 genomes]
rs60968744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61000891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61145028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61292713	1.00[EUR][1000 genomes]
rs61560681	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61573169	1.00[EUR][1000 genomes]
rs6486273	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101975	1.00[EUR][1000 genomes]
rs7103044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7103298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7105445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7114742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118842	1.00[EUR][1000 genomes]
rs7120852	1.00[EUR][1000 genomes]
rs7122351	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126907	1.00[EUR][1000 genomes]
rs7128209	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7128933	1.00[EUR][1000 genomes]
rs7130519	1.00[EUR][1000 genomes]
rs7130995	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417010	1.00[EUR][1000 genomes]
rs73417011	1.00[EUR][1000 genomes]
rs73417012	1.00[EUR][1000 genomes]
rs73417015	1.00[EUR][1000 genomes]
rs7926258	1.00[EUR][1000 genomes]
rs7933131	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7949999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs894006	1.00[EUR][1000 genomes]
rs9666192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9667689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832074	chr11:15927105-16100772	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1045933	chr11:16023805-16067955	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16024400-16067200	Weak transcription	Liver	Liver
2	chr11:16024800-16088200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:16034200-16079200	Weak transcription	Pancreas	Pancrea
4	chr11:16036000-16073800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:16037600-16081200	Weak transcription	Psoas Muscle	Psoas
6	chr11:16038200-16067200	Weak transcription	Fetal Muscle Leg	muscle
7	chr11:16043000-16102000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:16050000-16076200	Weak transcription	Fetal Kidney	kidney
9	chr11:16051000-16072400	Weak transcription	Esophagus	oesophagus
10	chr11:16054200-16066800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:16056600-16067200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:16056600-16077200	Weak transcription	Right Ventricle	heart
13	chr11:16058600-16066800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:16059400-16067800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:16062800-16066800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:16063000-16067000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:16063000-16068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:16063200-16069200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:16064800-16069200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:16064800-16071600	Strong transcription	Fetal Intestine Large	intestine
21	chr11:16065000-16067800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:16065000-16068800	Weak transcription	Brain Germinal Matrix	brain
23	chr11:16065400-16068200	Weak transcription	Small Intestine	intestine
24	chr11:16065600-16067000	Weak transcription	Fetal Intestine Small	intestine
25	chr11:16065600-16067200	Weak transcription	Left Ventricle	heart
26	chr11:16065600-16080400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:16065600-16085400	Weak transcription	Fetal Heart	heart

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