Variant report

Variant	rs9291720
Chromosome Location	chr5:60569967-60569968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60457988..60459859-chr5:60568864..60572383,3	MCF-7	breast:
2	chr5:60568345..60570305-chr5:60576207..60578303,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10044683	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10070347	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10471269	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10471511	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10939896	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12187377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6869396	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6870703	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73103624	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9291719	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60556000-60570200	Weak transcription	HSMM	muscle
3	chr5:60560800-60571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:60561000-60573200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:60564600-60570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
7	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
8	chr5:60565600-60570600	Weak transcription	HUVEC	blood vessel
9	chr5:60565800-60571000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:60565800-60571200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:60566000-60571200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:60566000-60573200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:60566400-60573000	Weak transcription	Stomach Mucosa	stomach
14	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:60567000-60571000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:60567000-60571000	Weak transcription	Lung	lung
17	chr5:60567600-60571200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:60567800-60571000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:60568200-60573000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:60568400-60570600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:60568400-60571000	Weak transcription	NHEK	skin
23	chr5:60568600-60571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:60568800-60573200	Weak transcription	HSMMtube	muscle
25	chr5:60569000-60571000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:60569000-60571800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:60569000-60572800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:60569000-60572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:60569000-60574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr5:60569200-60570400	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:60569200-60574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:60569400-60570000	Enhancers	Fetal Lung	lung
33	chr5:60569400-60571200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:60569400-60571200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:60569400-60571600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:60569400-60573000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:60569400-60573000	Weak transcription	Brain Substantia Nigra	brain
38	chr5:60569400-60573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:60569400-60574000	Enhancers	Primary B cells from cord blood	blood
40	chr5:60569600-60570600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:60569600-60571200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:60569600-60572800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:60569800-60570000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:60569800-60570000	Enhancers	Ovary	ovary
45	chr5:60569800-60571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:60569800-60572200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:60569800-60573200	Weak transcription	Right Atrium	heart

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