Variant report

Variant	rs573982684
Chromosome Location	chr1:153894828-153894829
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	chr1:153759800..153761704-chr1:153893842..153895431,2	K562	blood:
2	chr1:153858733..153861625-chr1:153893307..153895024,2	K562	blood:
3	chr1:153746879..153748867-chr1:153894033..153896594,2	K562	blood:
4	chr1:153699430..153701547-chr1:153893565..153895608,2	MCF-7	breast:
5	chr1:153893510..153896669-chr1:153958441..153960611,3	K562	blood:
6	chr1:153890756..153897034-chr1:153961597..153964863,14	K562	blood:
7	chr1:153892664..153896587-chr1:153948190..153951187,6	K562	blood:
8	chr1:153892719..153895039-chr1:153953793..153956278,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143543	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000143545	Chromatin interaction
ENSG00000177954	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv872450	chr1:153889042-153937513	Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	esv3441037	chr1:153893853-153896701	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3384628	chr1:153893928-153896576	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv3436408	chr1:153894528-153895976	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153892400-153895000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:153893200-153896200	Active TSS	NHDF-Ad	bronchial
3	chr1:153893600-153896400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:153893600-153897000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:153893800-153896000	Active TSS	NHLF	lung
6	chr1:153893800-153896200	Active TSS	HSMMtube	muscle
7	chr1:153893800-153896200	Active TSS	K562	blood
8	chr1:153893800-153896400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:153893800-153896400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:153893800-153896400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:153893800-153896600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:153893800-153896800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:153893800-153896800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:153893800-153896800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:153893800-153896800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:153893800-153897000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:153893800-153897400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr1:153894000-153896000	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:153894000-153896000	Active TSS	HSMM	muscle
20	chr1:153894000-153896000	Active TSS	NHEK	skin
21	chr1:153894000-153896400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:153894000-153896400	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr1:153894000-153896400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr1:153894000-153896400	Active TSS	Fetal Kidney	kidney
25	chr1:153894000-153896400	Active TSS	Ovary	ovary
26	chr1:153894000-153896600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:153894000-153896600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:153894000-153896600	Active TSS	Aorta	Aorta
29	chr1:153894000-153896800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:153894000-153896800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr1:153894000-153896800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:153894200-153896200	Active TSS	Fetal Stomach	stomach
33	chr1:153894200-153896600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:153894200-153896600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:153894200-153896600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:153894200-153896800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:153894200-153896800	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr1:153894200-153896800	Active TSS	A549	lung
39	chr1:153894400-153895000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:153894400-153895800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:153894400-153895800	Active TSS	HMEC	breast
42	chr1:153894400-153895800	Active TSS	NH-A	brain
43	chr1:153894400-153896000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:153894400-153896000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:153894400-153896000	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:153894400-153896000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:153894400-153896000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:153894400-153896000	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr1:153894400-153896000	Active TSS	Fetal Brain Female	brain
50	chr1:153894400-153896000	Active TSS	Rectal Smooth Muscle	rectum

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