Variant report

Variant	rs529044817
Chromosome Location	chr1:58931127-58931128
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58928999..58931330-chr1:58934194..58936691,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv829948	chr1:58803681-58971380	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv546314	chr1:58915624-58936384	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58899000-58934200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:58906200-58932000	Weak transcription	Ovary	ovary
3	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
4	chr1:58920400-58934000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:58921200-58932200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:58923200-58932400	Weak transcription	Fetal Heart	heart
7	chr1:58923200-58954200	Weak transcription	Pancreas	Pancrea
8	chr1:58923400-58932400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:58924000-58932400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:58925000-58942400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:58926400-58932400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:58926400-58942800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:58927400-58934000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:58927400-58943200	Weak transcription	Primary B cells from cord blood	blood
15	chr1:58928400-58932600	Strong transcription	Primary T cells from cord blood	blood
16	chr1:58928600-58945800	Weak transcription	Aorta	Aorta
17	chr1:58929000-58954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:58929200-58932800	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:58929400-58932200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:58929800-58934200	Weak transcription	Lung	lung
21	chr1:58930200-58932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:58930400-58945800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:58930400-58949400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:58930800-58931400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:58930800-58932400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:58930800-58934000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:58931000-58954200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:58931000-58954600	Weak transcription	Fetal Intestine Large	intestine
29	chr1:58931000-58954800	Weak transcription	Gastric	stomach
30	chr1:58931000-58977000	Weak transcription	Rectal Smooth Muscle	rectum

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