Variant report

Variant	rs72747972
Chromosome Location	chr5:40763227-40763228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40762484..40765387-chr5:40833487..40838148,4	K562	blood:
2	chr5:40759028..40761149-chr5:40761190..40763782,3	MCF-7	breast:
3	chr5:40761961..40764811-chr5:40832028..40833924,2	MCF-7	breast:
4	chr5:40761485..40763943-chr5:40764095..40766160,2	K562	blood:
5	chr5:40760388..40764938-chr5:40832988..40836769,5	MCF-7	breast:
6	chr5:40759710..40764703-chr5:40796509..40801670,5	K562	blood:

Variant related genes	Relation type
ENSG00000145592	Chromatin interaction
ENSG00000212296	Chromatin interaction
ENSG00000132356	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2202526	1.00[AFR][1000 genomes]
rs45498996	1.00[AFR][1000 genomes]
rs72745995	1.00[AFR][1000 genomes]
rs72747959	1.00[AFR][1000 genomes]
rs72747998	1.00[AFR][1000 genomes]
rs72749522	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40756000-40776000	Weak transcription	Aorta	Aorta
2	chr5:40756000-40780600	Weak transcription	Spleen	Spleen
3	chr5:40756200-40766800	Weak transcription	Small Intestine	intestine
4	chr5:40756200-40775200	Weak transcription	Stomach Mucosa	stomach
5	chr5:40756200-40797200	Weak transcription	Gastric	stomach
6	chr5:40756400-40764000	Weak transcription	Ovary	ovary
7	chr5:40756400-40764200	Weak transcription	Colonic Mucosa	Colon
8	chr5:40756400-40764600	Weak transcription	Fetal Lung	lung
9	chr5:40756400-40773800	Weak transcription	Lung	lung
10	chr5:40756400-40775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:40756400-40776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:40756400-40776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:40756400-40776800	Weak transcription	Psoas Muscle	Psoas
14	chr5:40756400-40780600	Weak transcription	Esophagus	oesophagus
15	chr5:40756400-40785200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:40756400-40797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:40756600-40763400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:40756600-40763400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:40756600-40764200	Weak transcription	NHEK	skin
20	chr5:40756600-40764400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr5:40756600-40764400	Weak transcription	Brain Angular Gyrus	brain
22	chr5:40756600-40764400	Weak transcription	Brain Anterior Caudate	brain
23	chr5:40756600-40764400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:40756600-40764400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:40756600-40764400	Weak transcription	Fetal Brain Female	brain
26	chr5:40756600-40764400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:40756600-40764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:40756600-40764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:40756600-40764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:40756600-40764600	Weak transcription	Right Ventricle	heart
31	chr5:40756600-40766400	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:40756600-40766800	Weak transcription	Brain Germinal Matrix	brain
33	chr5:40756600-40766800	Weak transcription	Left Ventricle	heart
34	chr5:40756600-40767600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:40756600-40770200	Weak transcription	Fetal Intestine Small	intestine
36	chr5:40756600-40775800	Weak transcription	Fetal Heart	heart
37	chr5:40756600-40776000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:40756600-40780600	Weak transcription	Pancreas	Pancrea
39	chr5:40756600-40781200	Weak transcription	Fetal Brain Male	brain
40	chr5:40757200-40777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:40757400-40768600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:40757600-40773600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:40758200-40777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:40758400-40777800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:40758800-40767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:40759000-40776200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:40759400-40777000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:40759400-40777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:40759600-40767800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr5:40759600-40776000	Strong transcription	Primary monocytes fromperipheralblood	blood

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