Variant report

Variant	rs73555593
Chromosome Location	chr11:107462942-107462943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11212301	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12271970	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281067	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12577893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616927	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784270	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939900	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483468	1.00[ASN][1000 genomes]
rs549541	1.00[ASN][1000 genomes]
rs597383	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs609471	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs611085	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652243	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668308	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670446	1.00[ASN][1000 genomes]
rs693605	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557714	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557719	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557724	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933941	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935762	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7949340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107460400-107463000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:107460400-107463000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:107460400-107465200	Active TSS	Brain Anterior Caudate	brain
4	chr11:107460600-107463000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr11:107460600-107463000	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr11:107460600-107465000	Active TSS	Brain Angular Gyrus	brain
7	chr11:107460800-107463000	Enhancers	Spleen	Spleen
8	chr11:107461200-107463000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
9	chr11:107461200-107463000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:107461200-107463000	Bivalent/Poised TSS	A549	lung
11	chr11:107461200-107463000	Active TSS	HSMM	muscle
12	chr11:107461200-107463200	Flanking Active TSS	Right Ventricle	heart
13	chr11:107461200-107463400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:107461200-107464600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:107461400-107463000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:107461400-107463000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr11:107461400-107463000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
18	chr11:107461400-107463200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
19	chr11:107461400-107463200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
20	chr11:107461600-107463000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:107461800-107463000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:107461800-107463200	Active TSS	HSMMtube	muscle
23	chr11:107461800-107463600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
24	chr11:107462000-107463000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
25	chr11:107462000-107463000	Flanking Bivalent TSS/Enh	NH-A	brain
26	chr11:107462000-107463200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:107462000-107463200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
28	chr11:107462000-107463600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr11:107462200-107463000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:107462200-107463000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
31	chr11:107462200-107463000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
32	chr11:107462200-107463000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:107462200-107463000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
34	chr11:107462200-107463000	Active TSS	Right Atrium	heart
35	chr11:107462200-107463000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr11:107462200-107463200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr11:107462200-107463200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr11:107462200-107463200	Flanking Bivalent TSS/Enh	NHEK	skin
39	chr11:107462200-107463600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:107462400-107463000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:107462400-107463000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:107462400-107463000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
43	chr11:107462400-107463400	Active TSS	Aorta	Aorta
44	chr11:107462600-107463000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:107462600-107463000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:107462600-107463000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
47	chr11:107462600-107463000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
48	chr11:107462600-107463000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
49	chr11:107462600-107463200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr11:107462600-107463200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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