Variant report

Variant	rs545280952
Chromosome Location	chr1:224691426-224691427
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224683423..224687942-chr1:224688283..224691740,8	K562	blood:
2	chr1:224619049..224621827-chr1:224690303..224691906,2	MCF-7	breast:
3	chr1:224688210..224692730-chr1:224708810..224713777,4	K562	blood:
4	chr1:224624808..224626574-chr1:224690723..224692820,2	K562	blood:
5	chr1:224643383..224644923-chr1:224691038..224692842,2	MCF-7	breast:
6	chr1:224679447..224681226-chr1:224689931..224692404,2	MCF-7	breast:
7	chr1:224690598..224692730-chr1:224711571..224713777,2	K562	blood:
8	chr1:224621492..224623034-chr1:224689907..224692360,2	K562	blood:
9	chr1:224690531..224692939-chr1:225090121..225091739,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction
ENSG00000162923	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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv947162	chr1:224690408-224695941	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:224687800-224692600	Enhancers	Fetal Thymus	thymus
3	chr1:224688600-224694400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:224689200-224692000	Enhancers	Thymus	Thymus
5	chr1:224689400-224691600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224689400-224691800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224689400-224692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224689400-224692000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:224689400-224692200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:224689600-224691600	Enhancers	Left Ventricle	heart
11	chr1:224689600-224691800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:224689600-224692000	Enhancers	Esophagus	oesophagus
13	chr1:224689600-224692000	Enhancers	Fetal Stomach	stomach
14	chr1:224689600-224692400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:224689600-224692400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:224689600-224692400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:224689600-224692400	Enhancers	Right Ventricle	heart
18	chr1:224689600-224692600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:224689600-224692600	Enhancers	Fetal Muscle Leg	muscle
20	chr1:224689600-224692600	Enhancers	Pancreas	Pancrea
21	chr1:224689600-224692600	Enhancers	Right Atrium	heart
22	chr1:224689600-224692600	Enhancers	Stomach Mucosa	stomach
23	chr1:224689600-224693000	Enhancers	Lung	lung
24	chr1:224689600-224693200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr1:224689600-224694600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:224689600-224694800	Enhancers	HMEC	breast
27	chr1:224689800-224692000	Enhancers	Fetal Lung	lung
28	chr1:224689800-224692000	Enhancers	GM12878-XiMat	blood
29	chr1:224689800-224692400	Enhancers	Fetal Heart	heart
30	chr1:224689800-224692600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:224689800-224692600	Enhancers	HUVEC	blood vessel
32	chr1:224689800-224694800	Enhancers	Adipose Nuclei	Adipose
33	chr1:224690000-224691800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr1:224690000-224691800	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:224690000-224691800	Enhancers	Ovary	ovary
36	chr1:224690000-224691800	Enhancers	Small Intestine	intestine
37	chr1:224690000-224692000	Enhancers	Brain Angular Gyrus	brain
38	chr1:224690000-224692000	Enhancers	Spleen	Spleen
39	chr1:224690000-224692000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr1:224690000-224692200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:224690000-224692400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:224690000-224692400	Enhancers	Fetal Brain Male	brain
43	chr1:224690000-224692400	Enhancers	Placenta	Placenta
44	chr1:224690000-224692600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr1:224690000-224692600	Enhancers	Primary hematopoietic stem cells	blood
46	chr1:224690000-224692600	Enhancers	Fetal Intestine Large	intestine
47	chr1:224690000-224692600	Enhancers	Fetal Intestine Small	intestine
48	chr1:224690000-224693000	Enhancers	Psoas Muscle	Psoas
49	chr1:224690000-224694400	Enhancers	NHLF	lung
50	chr1:224690000-224694800	Enhancers	NHDF-Ad	bronchial

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