Variant report

Variant	rs72772036
Chromosome Location	chr5:95950102-95950103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95949821..95950593-chr5:96023220..96024010,2	MCF-7	breast:
2	chr5:95949438..95951808-chr5:96023239..96024214,15	MCF-7	breast:
3	chr5:95949882..95950863-chr5:96497777..96498341,2	K562	blood:
4	chr5:95949330..95950528-chr5:96064710..96066043,6	MCF-7	breast:
5	chr5:95949549..95950328-chr5:96023131..96023820,3	K562	blood:
6	chr5:95948215..95952715-chr5:95997286..95999874,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

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

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

rs_ID	r²[population]
rs11744742	0.80[EUR][1000 genomes]
rs11748144	0.80[EUR][1000 genomes]
rs11749612	0.80[EUR][1000 genomes]
rs72772004	0.87[EUR][1000 genomes]
rs72772009	0.87[EUR][1000 genomes]
rs72772010	0.87[EUR][1000 genomes]
rs72772014	0.87[EUR][1000 genomes]
rs72772015	0.87[EUR][1000 genomes]
rs72772019	0.87[EUR][1000 genomes]
rs72772022	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772023	1.00[EUR][1000 genomes]
rs72772028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772034	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7707773	0.87[EUR][1000 genomes]
rs7708703	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95949400-95951200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:95949400-95951400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:95949600-95950400	Flanking Active TSS	HUVEC	blood vessel
4	chr5:95949600-95950800	Enhancers	A549	lung
5	chr5:95949600-95953200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:95949800-95950200	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:95949800-95950200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:95949800-95950400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:95949800-95950400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:95949800-95950400	Enhancers	Brain Hippocampus Middle	brain
11	chr5:95949800-95950400	Flanking Active TSS	HepG2	liver
12	chr5:95949800-95950400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr5:95949800-95950400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr5:95949800-95950600	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:95949800-95950600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:95949800-95950600	Enhancers	Liver	Liver
17	chr5:95949800-95950800	Enhancers	Brain Angular Gyrus	brain
18	chr5:95949800-95951200	Enhancers	Adipose Nuclei	Adipose
19	chr5:95949800-95951200	Enhancers	Duodenum Mucosa	Duodenum
20	chr5:95949800-95951200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr5:95949800-95951200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:95950000-95950200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:95950000-95950200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:95950000-95950200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95950000-95950200	Enhancers	Esophagus	oesophagus
26	chr5:95950000-95950200	Flanking Active TSS	Fetal Brain Male	brain
27	chr5:95950000-95950200	Enhancers	Right Atrium	heart
28	chr5:95950000-95950200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:95950000-95950400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:95950000-95950400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:95950000-95950400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:95950000-95950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:95950000-95950400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:95950000-95950400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:95950000-95950400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:95950000-95950400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:95950000-95950400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:95950000-95950400	Enhancers	Brain Anterior Caudate	brain
39	chr5:95950000-95950400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:95950000-95950400	Enhancers	Colon Smooth Muscle	Colon
41	chr5:95950000-95950400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:95950000-95950400	Enhancers	Fetal Intestine Large	intestine
43	chr5:95950000-95950400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr5:95950000-95950400	Enhancers	Fetal Lung	lung
45	chr5:95950000-95950400	Enhancers	Left Ventricle	heart
46	chr5:95950000-95950400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr5:95950000-95950400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr5:95950000-95950400	Enhancers	Rectal Smooth Muscle	rectum
49	chr5:95950000-95950400	Enhancers	Stomach Mucosa	stomach
50	chr5:95950000-95950400	Flanking Active TSS	Hela-S3	cervix

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