Variant report

Variant	rs72948420
Chromosome Location	chr1:84946015-84946016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84945634..84947258-chr1:85153889..85156502,2	K562	blood:
2	chr1:84943777..84946552-chr1:84970497..84973179,2	MCF-7	breast:
3	chr1:84765283..84767308-chr1:84944913..84946542,2	K562	blood:
4	chr1:84943714..84946459-chr1:85038706..85040687,2	K562	blood:
5	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
6	chr1:84765808..84767323-chr1:84944913..84947326,2	K562	blood:
7	chr1:84944684..84947410-chr1:84970225..84973395,6	MCF-7	breast:
8	chr1:84940376..84943283-chr1:84945216..84947221,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000117155	Chromatin interaction
ENSG00000117151	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000203943	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58028863	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948414	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948429	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948448	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948475	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948488	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84944200-84946200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:84944200-84946200	Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:84944200-84946200	Active TSS	A549	lung
4	chr1:84944200-84946400	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:84944400-84946200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:84944400-84946200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:84944400-84946200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:84944400-84946200	Active TSS	Colonic Mucosa	Colon
9	chr1:84944400-84946200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:84944400-84946200	Active TSS	Hela-S3	cervix
11	chr1:84944400-84946200	Active TSS	HSMM	muscle
12	chr1:84944400-84946200	Active TSS	HSMMtube	muscle
13	chr1:84944400-84946400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:84944400-84946400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:84944400-84946400	Active TSS	NHLF	lung
16	chr1:84944400-84946600	Active TSS	Psoas Muscle	Psoas
17	chr1:84944400-84946600	Active TSS	NHDF-Ad	bronchial
18	chr1:84944400-84947000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:84944600-84946200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:84944600-84946200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:84944600-84946200	Active TSS	Right Ventricle	heart
22	chr1:84944600-84946400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:84944600-84946400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:84944600-84946400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:84944600-84946400	Active TSS	Fetal Intestine Large	intestine
26	chr1:84944600-84946400	Active TSS	Right Atrium	heart
27	chr1:84944600-84947000	Active TSS	Aorta	Aorta
28	chr1:84944800-84946200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:84944800-84946200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:84944800-84946200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:84944800-84946200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:84944800-84946200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:84944800-84946200	Active TSS	Fetal Stomach	stomach
34	chr1:84944800-84946200	Active TSS	K562	blood
35	chr1:84944800-84946200	Active TSS	NHEK	skin
36	chr1:84944800-84946400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:84944800-84946400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:84944800-84946400	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr1:84944800-84946400	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr1:84944800-84946400	Active TSS	Primary T cells fromperipheralblood	blood
41	chr1:84944800-84946400	Active TSS	Brain Angular Gyrus	brain
42	chr1:84944800-84946400	Active TSS	Brain Hippocampus Middle	brain
43	chr1:84944800-84946600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:84944800-84946800	Active TSS	GM12878-XiMat	blood
45	chr1:84945200-84946600	Active TSS	Brain Germinal Matrix	brain
46	chr1:84945400-84946200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr1:84945400-84946400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr1:84945400-84946400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr1:84945400-84946400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:84945400-84946400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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