Variant report

Variant	rs575202055
Chromosome Location	chr1:93249379-93249380
allele	-/AAAAAG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93248724..93252766-chr1:93297083..93300077,5	MCF-7	breast:
2	chr1:93249024..93254901-chr1:93255339..93260264,13	K562	blood:
3	chr1:93249360..93255989-chr1:93295958..93302033,8	K562	blood:
4	chr1:93219197..93221453-chr1:93249271..93251757,2	K562	blood:

Variant related genes	Relation type
ENSG00000223896	Chromatin interaction
ENSG00000067208	Chromatin interaction
ENSG00000122406	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	esv3379601	chr1:93249189-93251737	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93239600-93249400	Weak transcription	Ovary	ovary
2	chr1:93240600-93249400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:93240600-93249400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:93240800-93249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:93241000-93249400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:93241000-93249400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:93241200-93249400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:93243400-93249600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:93244600-93249400	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:93244800-93249800	Weak transcription	Esophagus	oesophagus
11	chr1:93246000-93249600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:93246000-93249600	Weak transcription	Small Intestine	intestine
13	chr1:93246400-93249400	Weak transcription	Psoas Muscle	Psoas
14	chr1:93247800-93249400	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:93247800-93252000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:93248000-93249400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:93248000-93249600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:93248000-93251800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:93248200-93249400	Enhancers	Primary B cells from cord blood	blood
20	chr1:93248200-93249600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:93248400-93249400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:93248400-93249400	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:93248400-93249400	Weak transcription	NHDF-Ad	bronchial
24	chr1:93248400-93249600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:93248400-93249600	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:93248400-93249600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:93248400-93249800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:93248400-93251200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:93248600-93249400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:93248600-93249400	Weak transcription	Brain Substantia Nigra	brain
31	chr1:93248600-93249400	Weak transcription	Fetal Heart	heart
32	chr1:93248600-93249400	Weak transcription	Stomach Mucosa	stomach
33	chr1:93248600-93249400	Weak transcription	K562	blood
34	chr1:93248600-93249600	Enhancers	Fetal Brain Male	brain
35	chr1:93248600-93250800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:93248600-93251400	Active TSS	Right Ventricle	heart
37	chr1:93248600-93251600	Active TSS	NHLF	lung
38	chr1:93248800-93249400	Weak transcription	HepG2	liver
39	chr1:93248800-93249600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:93248800-93249600	Weak transcription	Gastric	stomach
41	chr1:93248800-93250000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:93248800-93251000	Active TSS	Hela-S3	cervix
43	chr1:93248800-93251000	Active TSS	NHEK	skin
44	chr1:93249000-93249400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:93249000-93249400	Bivalent Enhancer	Fetal Thymus	thymus
46	chr1:93249000-93249600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:93249000-93249600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:93249000-93249600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr1:93249000-93249600	Active TSS	Brain Germinal Matrix	brain
50	chr1:93249000-93249600	Weak transcription	Lung	lung

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