Variant report

Variant	rs72500268
Chromosome Location	chr22:27871724-27871725
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27866106..27868874-chr22:27870811..27872384,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16984776	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs16984789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16984790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16984794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16984797	0.94[ASN][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27869000-27872000	Enhancers	Fetal Thymus	thymus
2	chr22:27869000-27873600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:27869200-27873000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr22:27869400-27871800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr22:27869400-27873000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr22:27869400-27873400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:27869600-27873400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:27869800-27873400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:27869800-27873400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:27870000-27872200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:27870000-27872800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:27870000-27873000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr22:27870000-27873000	Enhancers	HSMMtube	muscle
14	chr22:27870000-27873400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:27870200-27872000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:27870200-27873000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr22:27870200-27873000	Enhancers	Osteobl	bone
18	chr22:27870400-27872600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:27870600-27872000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr22:27870600-27872200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr22:27870600-27872800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:27870600-27873400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:27870600-27873400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:27870600-27878200	Weak transcription	Fetal Brain Male	brain
25	chr22:27870800-27871800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr22:27870800-27871800	Flanking Active TSS	A549	lung
27	chr22:27870800-27872000	Enhancers	Placenta	Placenta
28	chr22:27870800-27872000	Enhancers	Spleen	Spleen
29	chr22:27870800-27872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:27870800-27873000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr22:27870800-27873000	Enhancers	NHDF-Ad	bronchial
32	chr22:27870800-27873000	Enhancers	NHLF	lung
33	chr22:27870800-27873200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:27870800-27873200	Enhancers	Hela-S3	cervix
35	chr22:27870800-27873600	Enhancers	Fetal Intestine Large	intestine
36	chr22:27870800-27873800	Enhancers	Fetal Intestine Small	intestine
37	chr22:27871000-27871800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:27871000-27871800	Enhancers	Right Atrium	heart
39	chr22:27871000-27872800	Enhancers	HMEC	breast
40	chr22:27871000-27873600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr22:27871200-27871800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr22:27871200-27871800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:27871200-27872000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:27871200-27872200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:27871200-27872600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr22:27871200-27873000	Enhancers	Liver	Liver
47	chr22:27871200-27873000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr22:27871200-27873600	Flanking Active TSS	NHEK	skin
49	chr22:27871400-27871800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr22:27871400-27872000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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