Variant report

Variant	rs56828980
Chromosome Location	chr1:226288867-226288868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226281557..226283150-chr1:226286865..226289299,2	MCF-7	breast:
2	chr1:226286961..226289894-chr1:226295202..226296764,2	MCF-7	breast:
3	chr1:226280306..226283507-chr1:226285698..226289497,4	K562	blood:
4	chr1:226280924..226283749-chr1:226285307..226289660,6	K562	blood:
5	chr1:226286017..226288107-chr1:226288751..226292148,3	K562	blood:
6	chr1:226286017..226288107-chr1:226288751..226291625,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57375208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59361210	0.92[AFR][1000 genomes]
rs61156352	0.86[AFR][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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226281200-226295000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:226286200-226297200	Weak transcription	Hela-S3	cervix
3	chr1:226286600-226291800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:226287600-226289000	Flanking Active TSS	GM12878-XiMat	blood
5	chr1:226287800-226289000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr1:226287800-226289000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:226287800-226289000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:226287800-226289000	Active TSS	A549	lung
9	chr1:226287800-226289000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr1:226287800-226289000	Active TSS	NHDF-Ad	bronchial
11	chr1:226287800-226289200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:226288000-226289000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:226288000-226289000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:226288000-226289000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:226288000-226289000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr1:226288000-226289000	Active TSS	Primary T cells from cord blood	blood
17	chr1:226288000-226289000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr1:226288000-226289000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:226288000-226289000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
20	chr1:226288000-226289000	Flanking Active TSS	Liver	Liver
21	chr1:226288000-226289000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr1:226288000-226289000	Active TSS	Duodenum Mucosa	Duodenum
23	chr1:226288000-226289000	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:226288000-226289000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr1:226288000-226289000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
26	chr1:226288000-226289000	Active TSS	Lung	lung
27	chr1:226288000-226289000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:226288000-226289000	Active TSS	Rectal Smooth Muscle	rectum
29	chr1:226288000-226289000	Active TSS	Right Ventricle	heart
30	chr1:226288000-226289000	Flanking Active TSS	HUVEC	blood vessel
31	chr1:226288200-226289000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr1:226288200-226289000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr1:226288200-226289000	Active TSS	Brain Hippocampus Middle	brain
34	chr1:226288200-226289000	Active TSS	Gastric	stomach
35	chr1:226288200-226289000	Active TSS	NHLF	lung
36	chr1:226288400-226289000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr1:226288400-226289000	Bivalent/Poised TSS	Fetal Lung	lung
38	chr1:226288400-226289000	Flanking Active TSS	Fetal Thymus	thymus
39	chr1:226288400-226289000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr1:226288400-226289000	Enhancers	K562	blood
41	chr1:226288400-226291800	Weak transcription	HMEC	breast
42	chr1:226288600-226289000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:226288600-226289000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:226288600-226289000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:226288600-226289000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:226288600-226289000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:226288600-226289000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
48	chr1:226288600-226289000	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr1:226288600-226289000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
50	chr1:226288600-226289000	Flanking Active TSS	Psoas Muscle	Psoas

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