Variant report

Variant	rs60658472
Chromosome Location	chr1:48001224-48001225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:48000498..48002075-chr1:48002528..48004927,2	MCF-7	breast:
2	chr1:47999483..48002878-chr1:48011210..48014102,3	K562	blood:
3	chr1:47997635..47999382-chr1:48000827..48002460,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17103268	1.00[AMR][1000 genomes]
rs35993428	1.00[AMR][1000 genomes]
rs4528158	1.00[AMR][1000 genomes]
rs56758748	1.00[AMR][1000 genomes]
rs57028704	1.00[AMR][1000 genomes]
rs57162997	1.00[AMR][1000 genomes]
rs57407602	1.00[AMR][1000 genomes]
rs58495352	1.00[AMR][1000 genomes]
rs59163203	1.00[AMR][1000 genomes]
rs59697055	1.00[AMR][1000 genomes]
rs60145556	1.00[AMR][1000 genomes]
rs60407409	1.00[AMR][1000 genomes]
rs60947098	1.00[AMR][1000 genomes]
rs61262802	1.00[AMR][1000 genomes]
rs61589643	1.00[AMR][1000 genomes]
rs6668966	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47999200-48001600	Enhancers	Left Ventricle	heart
2	chr1:47999200-48001600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:47999200-48002000	Weak transcription	Liver	Liver
4	chr1:47999600-48001400	Enhancers	Fetal Intestine Small	intestine
5	chr1:47999800-48001400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr1:48000000-48002200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:48000000-48002600	Weak transcription	Lung	lung
8	chr1:48000000-48002800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:48000000-48002800	Weak transcription	Gastric	stomach
10	chr1:48000000-48003000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:48000200-48001600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr1:48000200-48002800	Weak transcription	Colonic Mucosa	Colon
13	chr1:48000400-48002600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:48000400-48008200	Weak transcription	Stomach Mucosa	stomach
15	chr1:48000600-48002000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:48000600-48002000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:48000600-48002200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:48000600-48002400	Weak transcription	Right Ventricle	heart
19	chr1:48000600-48002600	Weak transcription	Placenta	Placenta
20	chr1:48000800-48002200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:48000800-48002400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:48001000-48002200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:48001000-48002200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:48001000-48003000	Enhancers	Fetal Kidney	kidney
25	chr1:48001200-48002200	Weak transcription	Fetal Lung	lung

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