Variant report

Variant	rs562809252
Chromosome Location	chr1:63152702-63152703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

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	chr1:63152116-63154856	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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:

No data

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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:63143000-63153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:63148600-63153000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:63148800-63152800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:63148800-63152800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:63149000-63152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:63149000-63152800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:63150000-63153000	Enhancers	Liver	Liver
10	chr1:63150200-63152800	Enhancers	Adipose Nuclei	Adipose
11	chr1:63150200-63152800	Enhancers	Fetal Brain Male	brain
12	chr1:63150200-63153000	Enhancers	Fetal Lung	lung
13	chr1:63150600-63152800	Enhancers	Stomach Mucosa	stomach
14	chr1:63150800-63152800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:63150800-63152800	Enhancers	K562	blood
16	chr1:63150800-63153000	Enhancers	Fetal Heart	heart
17	chr1:63151000-63153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:63151200-63152800	Enhancers	HUVEC	blood vessel
19	chr1:63151200-63153000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:63151400-63153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:63151400-63153000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr1:63151600-63152800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:63151600-63152800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:63151600-63153000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:63151600-63153000	Weak transcription	Aorta	Aorta
26	chr1:63151600-63153000	Weak transcription	Gastric	stomach
27	chr1:63151600-63153000	Weak transcription	Pancreas	Pancrea
28	chr1:63151600-63153000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr1:63151600-63153000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:63151600-63153200	Weak transcription	Esophagus	oesophagus
31	chr1:63151600-63153200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:63151600-63153200	Weak transcription	Spleen	Spleen
33	chr1:63151800-63152800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:63151800-63152800	Enhancers	HSMM	muscle
35	chr1:63151800-63153000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:63151800-63153000	Weak transcription	Ovary	ovary
37	chr1:63151800-63155200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:63152200-63152800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:63152200-63152800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:63152200-63152800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:63152200-63152800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:63152200-63152800	Enhancers	Brain Hippocampus Middle	brain
43	chr1:63152200-63152800	Enhancers	Colon Smooth Muscle	Colon
44	chr1:63152200-63152800	Flanking Active TSS	Fetal Brain Female	brain
45	chr1:63152200-63152800	Enhancers	Fetal Thymus	thymus
46	chr1:63152200-63152800	Flanking Active TSS	HepG2	liver
47	chr1:63152200-63153000	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr1:63152200-63153000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr1:63152200-63153200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:63152200-63153200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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