Variant report

Variant	rs57375208
Chromosome Location	chr1:226288504-226288505
allele	C/G
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:

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

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

rs_ID	r²[population]
rs56828980	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:120 , 50 per page) page: 1 2 3

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	chr1:226287600-226288600	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr1:226287600-226289000	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:226287800-226288600	Active TSS	Colon Smooth Muscle	Colon
7	chr1:226287800-226288600	Flanking Active TSS	NHEK	skin
8	chr1:226287800-226288800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:226287800-226288800	Active TSS	Brain Angular Gyrus	brain
10	chr1:226287800-226288800	Active TSS	Brain Anterior Caudate	brain
11	chr1:226287800-226288800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:226287800-226289000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:226287800-226289000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:226287800-226289000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr1:226287800-226289000	Active TSS	A549	lung
16	chr1:226287800-226289000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
17	chr1:226287800-226289000	Active TSS	NHDF-Ad	bronchial
18	chr1:226287800-226289200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:226288000-226288600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:226288000-226288600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:226288000-226288600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:226288000-226288600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:226288000-226288600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:226288000-226288600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:226288000-226288600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:226288000-226288600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:226288000-226288600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:226288000-226288600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:226288000-226288600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:226288000-226288600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:226288000-226288600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:226288000-226288600	Active TSS	Aorta	Aorta
33	chr1:226288000-226288600	Active TSS	Brain Substantia Nigra	brain
34	chr1:226288000-226288600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
35	chr1:226288000-226288600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr1:226288000-226288600	Flanking Active TSS	Placenta	Placenta
37	chr1:226288000-226288600	Active TSS	Psoas Muscle	Psoas
38	chr1:226288000-226288600	Active TSS	Stomach Smooth Muscle	stomach
39	chr1:226288000-226288800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:226288000-226288800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:226288000-226288800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr1:226288000-226288800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:226288000-226288800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:226288000-226288800	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:226288000-226288800	Active TSS	Colonic Mucosa	Colon
46	chr1:226288000-226288800	Active TSS	Fetal Intestine Small	intestine
47	chr1:226288000-226288800	Active TSS	Left Ventricle	heart
48	chr1:226288000-226288800	Flanking Active TSS	Ovary	ovary
49	chr1:226288000-226288800	Active TSS	Pancreas	Pancrea
50	chr1:226288000-226288800	Active TSS	Right Atrium	heart

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