Variant report

Variant	rs11020539
Chromosome Location	chr11:93583011-93583012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs11020537	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020538	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020543	0.87[ASN][1000 genomes]
rs11821265	0.81[ASN][1000 genomes]
rs11826139	0.85[ASN][1000 genomes]
rs11828927	0.92[ASN][1000 genomes]
rs1553601	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553602	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553603	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6483266	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102422	0.84[EUR][1000 genomes]
rs7109569	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123395	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123628	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71460609	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7937916	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941015	0.84[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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93578400-93583800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:93579000-93583200	Weak transcription	HMEC	breast
3	chr11:93579800-93583200	Weak transcription	HSMM	muscle
4	chr11:93582600-93583200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:93582600-93584200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:93582600-93584200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:93582600-93584200	Enhancers	NHDF-Ad	bronchial
8	chr11:93582800-93583200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:93582800-93583200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:93582800-93583200	Active TSS	Brain Germinal Matrix	brain
11	chr11:93582800-93583200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
12	chr11:93582800-93583200	Enhancers	Brain Substantia Nigra	brain
13	chr11:93582800-93583200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr11:93582800-93583200	Flanking Active TSS	Fetal Intestine Large	intestine
15	chr11:93582800-93583200	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr11:93582800-93583200	Flanking Active TSS	Placenta	Placenta
17	chr11:93582800-93583200	Enhancers	Gastric	stomach
18	chr11:93582800-93583200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:93582800-93583200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr11:93582800-93583200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:93582800-93583200	Flanking Active TSS	Stomach Mucosa	stomach
22	chr11:93582800-93583200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr11:93582800-93583200	Flanking Active TSS	K562	blood
24	chr11:93582800-93583200	Flanking Active TSS	Osteobl	bone
25	chr11:93582800-93583400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:93582800-93583400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:93582800-93583400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr11:93582800-93583400	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr11:93582800-93583600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:93582800-93583600	Active TSS	Pancreas	Pancrea
31	chr11:93582800-93583800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:93582800-93583800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:93582800-93583800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:93582800-93583800	Enhancers	Liver	Liver
35	chr11:93582800-93583800	Active TSS	Brain Cingulate Gyrus	brain
36	chr11:93582800-93583800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr11:93582800-93584000	Active TSS	Brain Angular Gyrus	brain
38	chr11:93582800-93584000	Active TSS	Colon Smooth Muscle	Colon
39	chr11:93582800-93584000	Active TSS	Rectal Smooth Muscle	rectum
40	chr11:93582800-93584200	Enhancers	Fetal Brain Male	brain
41	chr11:93582800-93584200	Active TSS	Fetal Kidney	kidney
42	chr11:93582800-93584200	Active TSS	Fetal Lung	lung
43	chr11:93583000-93583200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:93583000-93583200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr11:93583000-93583200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:93583000-93583200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:93583000-93583200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:93583000-93583200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr11:93583000-93583200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
50	chr11:93583000-93583200	Flanking Active TSS	Colonic Mucosa	Colon

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