Variant report

Variant	rs572845906
Chromosome Location	chr1:63151602-63151603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:63151355-63151635	K562	blood:	n/a	n/a
2	TCF12	chr1:63150858-63151642	SK-N-SH	brain:	n/a	n/a
3	GATA2	chr1:63151063-63151675	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr1:63151570-63151732	MCF10A-Er-Src	breast:	n/a	n/a
5	GATA3	chr1:63150758-63151859	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr1:63151342-63151608	HepG2	liver:	n/a	n/a
7	GATA1	chr1:63150942-63151665	PBDE	blood:	n/a	n/a
8	GATA3	chr1:63150861-63151880	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 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:

No data

Variant related genes	Relation type
ENSG00000235545	TF binding region
ENSG00000125703	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	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	esv5823	chr1:63151575-63152401	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:63141400-63152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:63142800-63152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:63143000-63152400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:63143000-63153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:63147600-63152600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:63148200-63152600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:63148400-63152600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:63148600-63153000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:63148800-63152200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:63148800-63152800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:63148800-63152800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:63149000-63152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:63149000-63152800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:63149600-63152600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:63150000-63153000	Enhancers	Liver	Liver
19	chr1:63150200-63151800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:63150200-63151800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:63150200-63152200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:63150200-63152400	Enhancers	A549	lung
23	chr1:63150200-63152800	Enhancers	Adipose Nuclei	Adipose
24	chr1:63150200-63152800	Enhancers	Fetal Brain Male	brain
25	chr1:63150200-63153000	Enhancers	Fetal Lung	lung
26	chr1:63150400-63152400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:63150600-63151800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:63150600-63152400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:63150600-63152400	Enhancers	NH-A	brain
30	chr1:63150600-63152800	Enhancers	Stomach Mucosa	stomach
31	chr1:63150800-63151800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:63150800-63151800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:63150800-63151800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:63150800-63151800	Enhancers	Ovary	ovary
35	chr1:63150800-63151800	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:63150800-63151800	Genic enhancers	HSMM	muscle
37	chr1:63150800-63151800	Enhancers	HSMMtube	muscle
38	chr1:63150800-63152200	Enhancers	Osteobl	bone
39	chr1:63150800-63152600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:63150800-63152600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:63150800-63152600	Enhancers	Duodenum Mucosa	Duodenum
42	chr1:63150800-63152600	Enhancers	Fetal Intestine Small	intestine
43	chr1:63150800-63152600	Enhancers	HMEC	breast
44	chr1:63150800-63152800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:63150800-63152800	Enhancers	K562	blood
46	chr1:63150800-63153000	Enhancers	Fetal Heart	heart
47	chr1:63151000-63151800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:63151000-63151800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:63151000-63151800	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr1:63151000-63152000	Enhancers	Primary hematopoietic stem cells	blood

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