Variant report

Variant	rs551595145
Chromosome Location	chr1:223536577-223536578
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:
2	chr1:223536301..223536801-chr22:50639192..50639860,2	HCT-116	colon:
3	chr1:223536038..223539069-chr1:223546089..223550790,4	MCF-7	breast:
4	chr1:223305860..223308306-chr1:223535536..223539484,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251789	Chromatin interaction
ENSG00000178395	Chromatin interaction
ENSG00000073169	Chromatin interaction
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1010798	chr1:223498145-223538989	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv826809	chr1:223536032-223538665	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	esv3438398	chr1:223536354-223539202	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223535600-223536600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:223535800-223536600	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:223535800-223538200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:223535800-223538800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:223535800-223538800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:223535800-223538800	Active TSS	Ovary	ovary
7	chr1:223535800-223539000	Active TSS	Brain Anterior Caudate	brain
8	chr1:223536000-223536600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:223536000-223536600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:223536000-223536600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:223536000-223536600	Bivalent Enhancer	Fetal Lung	lung
12	chr1:223536000-223536800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:223536000-223538200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr1:223536000-223538400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr1:223536000-223538600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:223536000-223538600	Active TSS	Brain Hippocampus Middle	brain
17	chr1:223536200-223536600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr1:223536200-223536600	Bivalent/Poised TSS	NHEK	skin
19	chr1:223536200-223537400	Flanking Active TSS	HSMM	muscle
20	chr1:223536200-223538600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:223536200-223538800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:223536200-223538800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:223536200-223539000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:223536200-223539000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:223536200-223539000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:223536400-223536600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:223536400-223536600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:223536400-223536600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:223536400-223536600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:223536400-223536600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:223536400-223536600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:223536400-223536600	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:223536400-223536600	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
34	chr1:223536400-223536600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:223536400-223536600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:223536400-223536600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:223536400-223536600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:223536400-223536600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
39	chr1:223536400-223536600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:223536400-223536600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:223536400-223536600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:223536400-223536600	Enhancers	Liver	Liver
43	chr1:223536400-223536600	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr1:223536400-223536600	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr1:223536400-223536600	Bivalent Enhancer	Colonic Mucosa	Colon
46	chr1:223536400-223536600	Bivalent Enhancer	Colon Smooth Muscle	Colon
47	chr1:223536400-223536600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr1:223536400-223536600	Bivalent Enhancer	Fetal Brain Male	brain
49	chr1:223536400-223536600	Weak transcription	Fetal Heart	heart
50	chr1:223536400-223536600	Bivalent Enhancer	Fetal Intestine Small	intestine

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