Variant report

Variant	rs57517348
Chromosome Location	chr11:10488099-10488100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10487786..10489702-chr11:10773796..10776018,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10770118	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10770120	0.90[EUR][1000 genomes]
rs28403593	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55634501	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55638917	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55931228	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59344411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59602345	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60628971	0.83[AMR][1000 genomes]
rs61891367	0.83[AMR][1000 genomes]
rs61891375	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61891379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61891382	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72856184	0.85[AMR][1000 genomes]
rs72857462	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs922360	0.90[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	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
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
2	chr11:10477800-10489000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:10478400-10489000	Weak transcription	A549	lung
4	chr11:10478400-10500000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:10478400-10502800	Weak transcription	Pancreas	Pancrea
6	chr11:10478800-10493600	Weak transcription	HSMM	muscle
7	chr11:10478800-10511600	Weak transcription	Psoas Muscle	Psoas
8	chr11:10479000-10502800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:10479800-10519400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:10481200-10494600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:10481400-10488400	Weak transcription	NHDF-Ad	bronchial
12	chr11:10482400-10489000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:10482600-10488400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:10482600-10488600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:10482600-10489000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:10482600-10489200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:10482800-10488600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:10482800-10488600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:10482800-10488600	Strong transcription	Thymus	Thymus
20	chr11:10482800-10488800	Strong transcription	Primary T cells from cord blood	blood
21	chr11:10482800-10488800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:10483000-10488800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:10483000-10489000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:10483200-10488200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:10483200-10489000	Strong transcription	Fetal Thymus	thymus
26	chr11:10483200-10489200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:10483400-10488400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr11:10483400-10488400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr11:10483400-10500600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:10483600-10489800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:10484000-10488600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:10484200-10509600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:10484200-10514800	Weak transcription	Colonic Mucosa	Colon
34	chr11:10484400-10488400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:10485000-10515200	Weak transcription	Liver	Liver
36	chr11:10485200-10501000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:10485400-10498600	Weak transcription	GM12878-XiMat	blood
38	chr11:10485600-10489200	Strong transcription	Brain Hippocampus Middle	brain
39	chr11:10485600-10495800	Weak transcription	Spleen	Spleen
40	chr11:10485600-10496800	Weak transcription	NHLF	lung
41	chr11:10485600-10500400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:10485600-10500800	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:10485600-10508200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:10485800-10495000	Weak transcription	Gastric	stomach
45	chr11:10485800-10495800	Weak transcription	Placenta	Placenta
46	chr11:10485800-10497200	Weak transcription	Lung	lung
47	chr11:10485800-10498400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr11:10485800-10511600	Weak transcription	Osteobl	bone
49	chr11:10486000-10504800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:10486200-10497000	Weak transcription	Brain Angular Gyrus	brain

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