Variant report

Variant	rs559733781
Chromosome Location	chr1:63152819-63152820
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:63152200-63154891	IMR90	lung:	n/a	n/a
2	MXI1	chr1:63152706-63154756	IMR90	lung:	n/a	n/a
3	REST	chr1:63152764-63154855	H1-neurons	neurons:	n/a	chr1:63153977-63153987 chr1:63154116-63154136 chr1:63154134-63154147
4	MXI1	chr1:63152116-63154856	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:63151590..63154458-chr1:63248689..63250715,2	K562	blood:
2	chr1:63144223..63146231-chr1:63150074..63152820,2	K562	blood:
3	chr1:63141617..63143983-chr1:63151351..63153918,2	MCF-7	breast:
4	chr1:63151590..63154458-chr1:63248689..63251365,3	K562	blood:
5	chr1:63146913..63149001-chr1:63152180..63153818,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235545	TF binding region
ENSG00000125703	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2553332	chr1:63151211-63152937	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	esv3443740	chr1:63152389-63155337	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	esv3437839	chr1:63152564-63156062	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:63143000-63153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:63148600-63153000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:63150000-63153000	Enhancers	Liver	Liver
5	chr1:63150200-63153000	Enhancers	Fetal Lung	lung
6	chr1:63150800-63153000	Enhancers	Fetal Heart	heart
7	chr1:63151000-63153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:63151200-63153000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:63151400-63153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:63151400-63153000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:63151600-63153000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:63151600-63153000	Weak transcription	Aorta	Aorta
13	chr1:63151600-63153000	Weak transcription	Gastric	stomach
14	chr1:63151600-63153000	Weak transcription	Pancreas	Pancrea
15	chr1:63151600-63153000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:63151600-63153000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:63151600-63153200	Weak transcription	Esophagus	oesophagus
18	chr1:63151600-63153200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:63151600-63153200	Weak transcription	Spleen	Spleen
20	chr1:63151800-63153000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:63151800-63153000	Weak transcription	Ovary	ovary
22	chr1:63151800-63155200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:63152200-63153000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr1:63152200-63153000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:63152200-63153200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:63152200-63153200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:63152200-63153200	Flanking Active TSS	NHEK	skin
28	chr1:63152200-63153200	Flanking Active TSS	Osteobl	bone
29	chr1:63152200-63154800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr1:63152200-63155000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:63152200-63155200	Active TSS	NHLF	lung
32	chr1:63152200-63155400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:63152400-63153000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:63152400-63153000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:63152400-63153000	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:63152400-63153000	Enhancers	Colonic Mucosa	Colon
37	chr1:63152400-63153000	Enhancers	Placenta	Placenta
38	chr1:63152400-63153000	Enhancers	Left Ventricle	heart
39	chr1:63152400-63153000	Enhancers	Lung	lung
40	chr1:63152400-63153000	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:63152400-63153000	Flanking Active TSS	NH-A	brain
42	chr1:63152400-63153200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:63152400-63153200	Flanking Active TSS	Dnd41	blood
44	chr1:63152400-63153200	Flanking Active TSS	Hela-S3	cervix
45	chr1:63152400-63154400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:63152400-63154800	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:63152400-63154800	Active TSS	Fetal Muscle Trunk	muscle
48	chr1:63152400-63154800	Active TSS	Psoas Muscle	Psoas
49	chr1:63152400-63155200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:63152600-63153000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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