Variant report

Variant	rs565007546
Chromosome Location	chr1:45098341-45098342
allele	C/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:44818922..44822604-chr1:45096121..45099112,6	K562	blood:
2	chr1:45089432..45094163-chr1:45095736..45099125,6	MCF-7	breast:
3	chr1:44677773..44680547-chr1:45095385..45099072,4	K562	blood:
4	chr1:45097493..45098414-chr6:43543365..43544009,2	HCT-116	colon:
5	chr1:45077147..45081258-chr1:45096476..45100107,4	MCF-7	breast:
6	chr1:44676967..44680043-chr1:45097059..45099100,3	K562	blood:
7	chr1:45096334..45100885-chr1:45195106..45197628,6	K562	blood:
8	chr1:45097570..45100220-chr1:45105727..45109004,3	MCF-7	breast:
9	chr1:45095169..45100377-chr1:45133934..45142864,15	K562	blood:
10	chr1:45095364..45099259-chr1:45185766..45189852,13	K562	blood:
11	chr1:45096334..45099417-chr1:45195073..45197438,5	K562	blood:
12	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
13	chr1:44482218..44484038-chr1:45097268..45099139,2	K562	blood:
14	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
15	chr1:45097395..45098344-chr11:8703634..8704499,2	NB4	blood:
16	chr1:44459804..44461997-chr1:45097523..45099408,2	MCF-7	breast:
17	chr1:45096002..45100159-chr1:45110119..45116077,6	MCF-7	breast:
18	chr1:44444668..44446709-chr1:45098219..45100033,2	K562	blood:
19	chr1:45096122..45099489-chr1:45284877..45287072,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198520	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000117411	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000124571	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000117419	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000196517	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000178028	Chromatin interaction
ENSG00000170734	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000159214	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv461395	chr1:44898998-45119965	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv546144	chr1:44898998-45119965	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
7	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
8	esv3341980	chr1:45097165-45099063	Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	23 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	chr1:45096800-45098400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:45096800-45098400	Active TSS	Fetal Kidney	kidney
3	chr1:45096800-45098400	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:45096800-45099000	Active TSS	A549	lung
5	chr1:45097000-45098400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:45097000-45098400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:45097000-45098400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:45097000-45098400	Active TSS	Left Ventricle	heart
9	chr1:45097000-45098600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:45097000-45098600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:45097000-45098600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:45097200-45098400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:45097200-45098400	Active TSS	Primary T cells from cord blood	blood
14	chr1:45097200-45098400	Active TSS	Colon Smooth Muscle	Colon
15	chr1:45097200-45098400	Active TSS	Fetal Lung	lung
16	chr1:45097200-45098400	Active TSS	Gastric	stomach
17	chr1:45097200-45098400	Active TSS	Ovary	ovary
18	chr1:45097200-45098400	Active TSS	Placenta Amnion	Placenta Amnion
19	chr1:45097200-45098400	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr1:45097200-45098400	Active TSS	Small Intestine	intestine
21	chr1:45097200-45098600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:45097200-45098600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:45097200-45098600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:45097200-45098600	Active TSS	Aorta	Aorta
25	chr1:45097200-45098600	Active TSS	Brain Substantia Nigra	brain
26	chr1:45097200-45098600	Active TSS	Pancreas	Pancrea
27	chr1:45097200-45098600	Active TSS	Psoas Muscle	Psoas
28	chr1:45097200-45098800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:45097200-45098800	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:45097200-45099000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:45097400-45098400	Active TSS	H1 Cell Line	embryonic stem cell
32	chr1:45097400-45098400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:45097400-45098400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:45097400-45098400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr1:45097400-45098400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr1:45097400-45098400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:45097400-45098400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:45097400-45098400	Active TSS	Brain Cingulate Gyrus	brain
39	chr1:45097400-45098400	Active TSS	Brain Hippocampus Middle	brain
40	chr1:45097400-45098400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr1:45097400-45098400	Active TSS	Duodenum Mucosa	Duodenum
42	chr1:45097400-45098400	Active TSS	Esophagus	oesophagus
43	chr1:45097400-45098400	Active TSS	Lung	lung
44	chr1:45097400-45098400	Active TSS	Right Ventricle	heart
45	chr1:45097400-45098400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr1:45097400-45098400	Active TSS	HSMMtube	muscle
47	chr1:45097400-45098400	Active TSS	HUVEC	blood vessel
48	chr1:45097400-45098400	Active TSS	NHLF	lung
49	chr1:45097400-45098600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:45097400-45098600	Active TSS	HUES48 Cell Line	embryonic stem cell

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