Variant report

Variant	rs72472369
Chromosome Location	chr1:220921835-220921836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220862132..220866220-chr1:220920879..220923309,4	MCF-7	breast:
2	chr1:220920704..220923005-chr1:220929506..220932087,2	MCF-7	breast:
3	chr1:220921708..220923550-chr1:220934385..220936474,2	MCF-7	breast:
4	chr1:202857727..202858610-chr1:220921308..220922105,2	Hela-S3	cervix:
5	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:
6	chr1:220920087..220922800-chr1:220958239..220960991,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162817	Chromatin interaction
ENSG00000186205	Chromatin interaction
ENSG00000183155	Chromatin interaction
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6699853	0.82[AFR][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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv160470	chr1:220919015-220922779	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220920600-220922600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:220920600-220922800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:220920800-220922400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:220920800-220922400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:220920800-220922600	Active TSS	Left Ventricle	heart
6	chr1:220920800-220922800	Active TSS	Fetal Kidney	kidney
7	chr1:220920800-220924000	Active TSS	Brain Anterior Caudate	brain
8	chr1:220920800-220924000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:220920800-220924200	Active TSS	Brain Angular Gyrus	brain
10	chr1:220921000-220922000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:220921000-220922400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:220921000-220922400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:220921000-220922400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:220921000-220922600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:220921000-220922600	Active TSS	Psoas Muscle	Psoas
16	chr1:220921000-220922800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:220921000-220922800	Active TSS	Ovary	ovary
18	chr1:220921000-220922800	Active TSS	Right Ventricle	heart
19	chr1:220921000-220923600	Active TSS	Right Atrium	heart
20	chr1:220921200-220922000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:220921200-220922200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:220921200-220922200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:220921200-220922400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:220921200-220922400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:220921200-220922400	Active TSS	Brain Substantia Nigra	brain
26	chr1:220921200-220922400	Active TSS	Colonic Mucosa	Colon
27	chr1:220921200-220922400	Active TSS	Lung	lung
28	chr1:220921200-220922400	Active TSS	Placenta Amnion	Placenta Amnion
29	chr1:220921200-220922400	Active TSS	A549	lung
30	chr1:220921200-220922600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr1:220921200-220922800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr1:220921200-220922800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:220921200-220923000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:220921200-220923000	Active TSS	Fetal Heart	heart
35	chr1:220921200-220923000	Active TSS	Fetal Intestine Large	intestine
36	chr1:220921200-220923600	Active TSS	Rectal Smooth Muscle	rectum
37	chr1:220921200-220924000	Active TSS	Aorta	Aorta
38	chr1:220921400-220922000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr1:220921400-220922000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:220921400-220922000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:220921400-220922000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:220921400-220922000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:220921400-220922000	Active TSS	Adipose Nuclei	Adipose
44	chr1:220921400-220922000	Active TSS	Fetal Muscle Trunk	muscle
45	chr1:220921400-220922000	Active TSS	Fetal Stomach	stomach
46	chr1:220921400-220922000	Active TSS	Pancreas	Pancrea
47	chr1:220921400-220922000	Active TSS	Stomach Smooth Muscle	stomach
48	chr1:220921400-220922000	Bivalent/Poised TSS	HepG2	liver
49	chr1:220921400-220922200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr1:220921400-220922200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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