Variant report

Variant	rs569049313
Chromosome Location	chr1:154531030-154531031
allele	-/CTCCG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154473384..154476326-chr1:154529885..154532539,2	MCF-7	breast:
2	chr1:154163875..154165876-chr1:154529636..154532185,2	MCF-7	breast:
3	chr1:154530922..154531876-chr3:48754303..48754928,2	HCT-116	colon:
4	chr1:154505955..154508916-chr1:154529670..154532236,2	K562	blood:
5	chr1:154529667..154532782-chr1:154942768..154945185,3	MCF-7	breast:
6	chr1:154191162..154194521-chr1:154529038..154532016,3	MCF-7	breast:
7	chr1:154529464..154531504-chr1:155098937..155100767,2	MCF-7	breast:
8	chr1:154530350..154531883-chr1:154574415..154576930,2	MCF-7	breast:
9	chr1:154528898..154533098-chr1:154907799..154911445,7	MCF-7	breast:
10	chr1:154300262..154302109-chr1:154529497..154531413,2	MCF-7	breast:
11	chr1:154529851..154531893-chr1:154548972..154552165,3	MCF-7	breast:
12	chr1:154529703..154532693-chr1:155057067..155059987,2	K562	blood:
13	chr1:154530639..154532673-chr1:154599012..154601442,2	K562	blood:
14	chr1:154530842..154531643-chr12:27090977..27091858,2	Hela-S3	cervix:
15	chr1:154530233..154532966-chr1:154538204..154541561,3	K562	blood:
16	chr1:154529028..154532359-chr1:155034427..155037689,4	MCF-7	breast:
17	chr1:154529257..154532572-chr1:154598516..154601356,4	MCF-7	breast:
18	chr1:154530233..154533708-chr1:154538204..154541561,4	K562	blood:
19	chr1:154529336..154531391-chr1:154925736..154927605,2	MCF-7	breast:
20	chr1:154529223..154531101-chr1:154799055..154800739,2	K562	blood:
21	chr1:154529929..154534088-chr1:154598976..154602957,6	MCF-7	breast:
22	chr1:154528881..154534687-chr1:154578685..154583746,8	MCF-7	breast:
23	chr1:154530841..154531520-chr12:121837303..121837817,2	Hela-S3	cervix:
24	chr1:154450828..154453659-chr1:154529713..154531945,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273110	Chromatin interaction
ENSG00000160710	Chromatin interaction
ENSG00000233875	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000068745	Chromatin interaction
ENSG00000270361	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000169291	Chromatin interaction
ENSG00000064102	Chromatin interaction
ENSG00000163346	Chromatin interaction
ENSG00000111790	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000163239	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000160716	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000089053	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv3392983	chr1:154529853-154532901	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	esv3407675	chr1:154530078-154532176	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
5	esv3405335	chr1:154530628-154531726	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	27 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	chr1:154528800-154531600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:154528800-154532000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:154529000-154532200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr1:154529200-154531800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:154529200-154532000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:154529200-154532200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:154529400-154531400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:154529400-154531600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:154529400-154531600	Active TSS	Fetal Muscle Trunk	muscle
10	chr1:154529400-154531600	Active TSS	GM12878-XiMat	blood
11	chr1:154529400-154531800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:154529400-154532200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:154529600-154531600	Active TSS	NHDF-Ad	bronchial
14	chr1:154529600-154531800	Active TSS	Esophagus	oesophagus
15	chr1:154529600-154532000	Active TSS	Aorta	Aorta
16	chr1:154529600-154532200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:154529800-154531600	Active TSS	Pancreas	Pancrea
18	chr1:154529800-154531600	Active TSS	Right Ventricle	heart
19	chr1:154529800-154531800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:154529800-154531800	Active TSS	A549	lung
21	chr1:154529800-154532000	Active TSS	Lung	lung
22	chr1:154530000-154531600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:154530000-154531600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:154530000-154531600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:154530000-154531600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:154530000-154531600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:154530000-154531600	Active TSS	Fetal Intestine Small	intestine
28	chr1:154530000-154531600	Active TSS	HSMM	muscle
29	chr1:154530000-154531600	Active TSS	HSMMtube	muscle
30	chr1:154530000-154531600	Active TSS	NHLF	lung
31	chr1:154530000-154531800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:154530000-154531800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:154530000-154531800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:154530200-154531600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:154530200-154531600	Active TSS	Left Ventricle	heart
36	chr1:154530200-154531600	Active TSS	HMEC	breast
37	chr1:154530200-154531800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:154530200-154531800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:154530200-154531800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:154530200-154531800	Active TSS	Colon Smooth Muscle	Colon
41	chr1:154530200-154532000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:154530200-154532000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:154530200-154532200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:154530200-154532200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:154530200-154532200	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:154530200-154532200	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:154530200-154532200	Active TSS	Fetal Kidney	kidney
48	chr1:154530400-154531400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:154530400-154531400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:154530400-154531400	Active TSS	Placenta Amnion	Placenta Amnion

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