Variant report

Variant	rs904469
Chromosome Location	chr11:72324039-72324040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72313216..72314795-chr11:72323736..72325517,2	K562	blood:
2	chr11:72316726..72319178-chr11:72323210..72325569,2	K562	blood:
3	chr11:72321761..72324145-chr11:72337508..72339149,2	K562	blood:

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

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

rs_ID	r²[population]
rs11235547	0.94[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1513780	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs3781931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781934	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944563	0.94[EUR][1000 genomes]
rs4944566	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs55738331	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55861597	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56210510	0.95[EUR][1000 genomes]
rs754042	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs755933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72317600-72326400	Weak transcription	Gastric	stomach
2	chr11:72318600-72324600	Weak transcription	Right Atrium	heart
3	chr11:72318800-72324400	Weak transcription	Fetal Brain Female	brain
4	chr11:72319000-72324400	Weak transcription	Brain Germinal Matrix	brain
5	chr11:72319000-72325400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:72319200-72325200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:72319400-72324200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:72319800-72325200	Weak transcription	Brain Anterior Caudate	brain
9	chr11:72320000-72324600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:72320000-72325000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:72320200-72325400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:72320600-72324800	Weak transcription	Left Ventricle	heart
13	chr11:72320800-72325000	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:72321600-72324600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:72322800-72324200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:72322800-72324200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:72322800-72326600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:72322800-72326600	Enhancers	Spleen	Spleen
19	chr11:72323000-72324200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:72323000-72324400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:72323000-72325200	Weak transcription	Esophagus	oesophagus
22	chr11:72323000-72325800	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:72323200-72324600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
24	chr11:72323200-72325200	Enhancers	Adipose Nuclei	Adipose
25	chr11:72323200-72326200	Enhancers	Primary B cells from cord blood	blood
26	chr11:72323400-72324400	Weak transcription	Right Ventricle	heart
27	chr11:72323400-72325400	Weak transcription	Fetal Lung	lung
28	chr11:72323800-72324200	Weak transcription	Liver	Liver
29	chr11:72323800-72324200	Weak transcription	Fetal Brain Male	brain
30	chr11:72323800-72330400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr11:72323800-72331600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:72324000-72324200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr11:72324000-72324400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:72324000-72325800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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