Variant report

Variant	rs72761408
Chromosome Location	chr5:60570792-60570793
allele	A/T
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:

Variant related genes	Relation type
ENSG00000188725	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10041973	0.86[ASN][1000 genomes]
rs10056472	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10079115	0.85[ASN][1000 genomes]
rs10939894	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10939895	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11747588	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11949390	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12696981	0.85[ASN][1000 genomes]
rs12696982	0.90[ASN][1000 genomes]
rs13167234	0.83[ASN][1000 genomes]
rs13167244	0.83[ASN][1000 genomes]
rs13179814	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13187871	0.81[ASN][1000 genomes]
rs13355792	0.85[ASN][1000 genomes]
rs4235485	0.85[ASN][1000 genomes]
rs4315878	0.90[ASN][1000 genomes]
rs4379148	0.85[ASN][1000 genomes]
rs4640746	0.88[ASN][1000 genomes]
rs4700415	0.83[ASN][1000 genomes]
rs62366231	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6449523	0.90[ASN][1000 genomes]
rs67749311	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72759289	0.81[ASN][1000 genomes]
rs72759299	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7721603	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60560800-60571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:60561000-60573200	Weak transcription	Brain Hippocampus Middle	brain
4	chr5:60564600-60570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
7	chr5:60565800-60571000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:60565800-60571200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:60566000-60571200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:60566000-60573200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:60566400-60573000	Weak transcription	Stomach Mucosa	stomach
12	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:60567000-60571000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:60567000-60571000	Weak transcription	Lung	lung
15	chr5:60567600-60571200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:60567800-60571000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:60567800-60577200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:60568200-60573000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:60568400-60571000	Weak transcription	NHEK	skin
20	chr5:60568600-60571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:60568800-60573200	Weak transcription	HSMMtube	muscle
22	chr5:60569000-60571000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:60569000-60571800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:60569000-60572800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:60569000-60572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:60569000-60574000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:60569200-60574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr5:60569400-60571200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:60569400-60571200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:60569400-60571600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:60569400-60573000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:60569400-60573000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:60569400-60573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:60569400-60574000	Enhancers	Primary B cells from cord blood	blood
35	chr5:60569600-60571200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:60569600-60572800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:60569800-60571000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:60569800-60572200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:60569800-60573200	Weak transcription	Right Atrium	heart
40	chr5:60570000-60571000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:60570000-60571000	Weak transcription	Ovary	ovary
42	chr5:60570000-60571200	Enhancers	Osteobl	bone
43	chr5:60570000-60572000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:60570000-60573200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr5:60570000-60573800	Enhancers	NHLF	lung
46	chr5:60570200-60572000	Enhancers	HSMM	muscle
47	chr5:60570200-60573200	Enhancers	NHDF-Ad	bronchial
48	chr5:60570400-60570800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:60570400-60570800	Enhancers	Colon Smooth Muscle	Colon
50	chr5:60570400-60572000	Enhancers	Fetal Lung	lung

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