Variant report

Variant	rs2577153
Chromosome Location	chr1:220268628-220268629
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:11)
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	POLR2A	chr1:220268405-220268643	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:220268570-220268686	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:220267529..220269249-chr1:220275235..220276981,2	K562	blood:
2	chr1:220260533..220264899-chr1:220265232..220269626,12	MCF-7	breast:
3	chr1:220218535..220220494-chr1:220265581..220269628,4	MCF-7	breast:
4	chr1:220090768..220093296-chr1:220265981..220268772,2	K562	blood:
5	chr1:220261171..220264758-chr1:220266195..220270505,9	MCF-7	breast:
6	chr1:220266934..220269601-chr1:220286713..220289289,2	K562	blood:
7	chr1:220266934..220268710-chr1:220286713..220288993,3	K562	blood:
8	chr1:220267849..220270969-chr1:220271218..220274109,4	MCF-7	breast:
9	chr1:220215698..220221065-chr1:220265352..220268996,5	K562	blood:
10	chr1:220266254..220269129-chr1:220290209..220292443,2	MCF-7	breast:
11	chr1:220218169..220221765-chr1:220261064..220269153,11	MCF-7	breast:

No data

Variant related genes	Relation type
BPNT1	TF binding region
ENSG00000207624	Chromatin interaction
ENSG00000136628	Chromatin interaction
ENSG00000196660	Chromatin interaction
ENSG00000162813	Chromatin interaction
ENSG00000207590	Chromatin interaction
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2577154	0.88[AFR][1000 genomes]
rs2647471	1.00[AMR][1000 genomes]
rs904327	1.00[AMR][1000 genomes]

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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220266800-220268800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:220266800-220269000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:220267000-220268800	Active TSS	NHDF-Ad	bronchial
4	chr1:220267000-220269000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:220267000-220269000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:220267000-220269000	Active TSS	HMEC	breast
7	chr1:220267000-220269200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:220267200-220268800	Active TSS	A549	lung
9	chr1:220267200-220268800	Active TSS	GM12878-XiMat	blood
10	chr1:220267200-220269000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:220267400-220268800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:220267400-220269400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:220268000-220268800	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:220268000-220269000	Flanking Active TSS	Dnd41	blood
15	chr1:220268000-220269200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:220268200-220268800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:220268200-220269000	Enhancers	Primary B cells from cord blood	blood
18	chr1:220268200-220269200	Enhancers	Fetal Brain Male	brain
19	chr1:220268200-220269200	Enhancers	Small Intestine	intestine
20	chr1:220268200-220269400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:220268200-220269600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:220268200-220270600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:220268200-220275400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:220268400-220268800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:220268400-220268800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:220268400-220268800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:220268400-220268800	Enhancers	Fetal Heart	heart
28	chr1:220268400-220268800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:220268400-220268800	Flanking Active TSS	K562	blood
30	chr1:220268400-220269000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:220268400-220269000	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:220268400-220269000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:220268400-220269000	Enhancers	Osteobl	bone
34	chr1:220268400-220269200	Enhancers	Primary B cells from peripheral blood	blood
35	chr1:220268400-220269200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:220268400-220269200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:220268400-220269200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:220268400-220269200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:220268400-220269200	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:220268400-220269200	Enhancers	Brain Substantia Nigra	brain
41	chr1:220268400-220269200	Enhancers	Fetal Lung	lung
42	chr1:220268400-220269200	Enhancers	Left Ventricle	heart
43	chr1:220268400-220269200	Enhancers	Lung	lung
44	chr1:220268400-220269200	Enhancers	Right Atrium	heart
45	chr1:220268400-220269200	Enhancers	Spleen	Spleen
46	chr1:220268400-220269200	Enhancers	HUVEC	blood vessel
47	chr1:220268400-220269200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr1:220268400-220269400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:220268400-220269400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr1:220268400-220269400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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