Variant report

Variant	rs4944563
Chromosome Location	chr11:72316881-72316882
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72316726..72319178-chr11:72323210..72325569,2	K562	blood:
2	chr11:72300647..72303115-chr11:72315486..72318299,2	MCF-7	breast:
3	chr11:72315461..72317278-chr11:72318771..72321876,3	K562	blood:
4	chr11:72314859..72319000-chr11:72319326..72322445,4	K562	blood:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11235547	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513780	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781931	0.93[EUR][1000 genomes]
rs3781934	0.94[EUR][1000 genomes]
rs4944566	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55738331	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55861597	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56210510	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs754042	0.94[EUR][1000 genomes]
rs755933	0.94[EUR][1000 genomes]
rs904469	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72312000-72317000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:72312200-72317000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:72312800-72317600	Genic enhancers	Spleen	Spleen
4	chr11:72313400-72322400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:72313600-72317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:72315800-72319000	Enhancers	Ovary	ovary
7	chr11:72316000-72317400	Genic enhancers	Brain Angular Gyrus	brain
8	chr11:72316000-72317400	Enhancers	Pancreas	Pancrea
9	chr11:72316000-72319400	Genic enhancers	Right Ventricle	heart
10	chr11:72316000-72319600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:72316200-72317200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:72316200-72318400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:72316400-72317800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:72316600-72317000	Enhancers	Psoas Muscle	Psoas
15	chr11:72316600-72317000	Enhancers	HSMM	muscle
16	chr11:72316600-72317400	Genic enhancers	Adipose Nuclei	Adipose
17	chr11:72316600-72317400	Enhancers	Brain Hippocampus Middle	brain
18	chr11:72316600-72317400	Enhancers	Colon Smooth Muscle	Colon
19	chr11:72316600-72317400	Enhancers	Esophagus	oesophagus
20	chr11:72316600-72317600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:72316600-72317600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:72316600-72317600	Enhancers	Placenta	Placenta
23	chr11:72316600-72317800	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr11:72316600-72318400	Enhancers	Fetal Muscle Leg	muscle
25	chr11:72316600-72318400	Enhancers	HSMMtube	muscle
26	chr11:72316600-72319400	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:72316600-72319800	Enhancers	Brain Anterior Caudate	brain
28	chr11:72316600-72320600	Enhancers	Left Ventricle	heart
29	chr11:72316800-72317000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:72316800-72317000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr11:72316800-72317000	Weak transcription	Fetal Brain Female	brain
32	chr11:72316800-72317000	Enhancers	Gastric	stomach
33	chr11:72316800-72317200	Enhancers	Liver	Liver
34	chr11:72316800-72317200	Enhancers	Colonic Mucosa	Colon
35	chr11:72316800-72317200	Bivalent Enhancer	NHLF	lung
36	chr11:72316800-72317600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:72316800-72317600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr11:72316800-72317600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr11:72316800-72317600	Bivalent Enhancer	NHDF-Ad	bronchial
40	chr11:72316800-72317800	Enhancers	Fetal Lung	lung
41	chr11:72316800-72318600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr11:72316800-72318600	Enhancers	Right Atrium	heart
43	chr11:72316800-72319000	Genic enhancers	Brain Germinal Matrix	brain

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