Variant report

Variant	rs754042
Chromosome Location	chr11:72326275-72326276
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11235547	0.81[EUR][1000 genomes]
rs1513780	0.95[EUR][1000 genomes]
rs3781931	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3781934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944563	0.94[EUR][1000 genomes]
rs4944566	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs55738331	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55861597	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56210510	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs755933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs904469	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72317600-72326400	Weak transcription	Gastric	stomach
2	chr11:72322800-72326600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:72322800-72326600	Enhancers	Spleen	Spleen
4	chr11:72323800-72330400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr11:72323800-72331600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72324200-72326400	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:72324200-72331400	Enhancers	Fetal Brain Male	brain
8	chr11:72324400-72327000	Enhancers	Right Ventricle	heart
9	chr11:72324400-72329200	Enhancers	Fetal Brain Female	brain
10	chr11:72324400-72330000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr11:72324400-72331000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:72324600-72326400	Bivalent Enhancer	Fetal Thymus	thymus
13	chr11:72324600-72329400	Enhancers	Brain Hippocampus Middle	brain
14	chr11:72324600-72329400	Enhancers	Right Atrium	heart
15	chr11:72324800-72327200	Bivalent Enhancer	Fetal Stomach	stomach
16	chr11:72324800-72331200	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:72325000-72326600	Enhancers	K562	blood
18	chr11:72325000-72326800	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr11:72325000-72327000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr11:72325000-72328400	Enhancers	Colon Smooth Muscle	Colon
21	chr11:72325200-72329600	Enhancers	Brain Anterior Caudate	brain
22	chr11:72325400-72326400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:72325400-72326800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:72325400-72327400	Weak transcription	Lung	lung
25	chr11:72325400-72329800	Enhancers	Brain Angular Gyrus	brain
26	chr11:72325400-72330000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr11:72325600-72329600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:72325600-72331400	Enhancers	Adipose Nuclei	Adipose
29	chr11:72325800-72326400	Enhancers	HSMMtube	muscle
30	chr11:72325800-72326800	Weak transcription	Liver	Liver
31	chr11:72325800-72327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:72325800-72327200	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:72325800-72328200	Weak transcription	Fetal Lung	lung
34	chr11:72326000-72326400	Weak transcription	Brain Germinal Matrix	brain
35	chr11:72326000-72326400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
36	chr11:72326000-72327000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:72326000-72328000	Weak transcription	Fetal Heart	heart
38	chr11:72326000-72328000	Weak transcription	Ovary	ovary
39	chr11:72326200-72326400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr11:72326200-72326400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
41	chr11:72326200-72327600	Enhancers	Esophagus	oesophagus
42	chr11:72326200-72327600	Weak transcription	Left Ventricle	heart
43	chr11:72326200-72331600	Weak transcription	Primary B cells from cord blood	blood

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