Variant report

Variant	rs375492019
Chromosome Location	chr1:45484274-45484275
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45483655..45486167-chr1:45802201..45804305,2	K562	blood:
2	chr1:45483104..45484724-chr1:45490873..45492941,2	K562	blood:
3	chr1:45483477..45484967-chr1:45765750..45766657,4	K562	blood:
4	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
5	chr1:45484129..45484961-chr1:45769347..45770315,2	K562	blood:
6	chr1:45482345..45484376-chr1:45808953..45810497,2	K562	blood:
7	chr1:45475929..45480621-chr1:45481195..45486078,6	MCF-7	breast:
8	chr1:45482594..45485585-chr1:45656946..45658548,2	K562	blood:
9	chr1:45185920..45189252-chr1:45480937..45484378,4	K562	blood:
10	chr1:45483402..45485551-chr1:45804133..45806888,2	K562	blood:
11	chr1:45285085..45286788-chr1:45483316..45485098,2	K562	blood:
12	chr1:45480075..45485962-chr1:45670647..45674355,5	MCF-7	breast:
13	chr1:45483055..45484838-chr1:45740397..45743390,2	K562	blood:
14	chr1:45483996..45486300-chr1:45594488..45596026,2	K562	blood:
15	chr1:45483202..45484788-chr1:45677331..45680052,2	K562	blood:
16	chr1:45484097..45484937-chr1:45766011..45766623,2	MCF-7	breast:
17	chr1:45484177..45484927-chr1:45695999..45696897,4	MCF-7	breast:
18	chr1:45483767..45484830-chr1:45695988..45696895,3	MCF-7	breast:
19	chr1:45184531..45190715-chr1:45481425..45486664,6	K562	blood:
20	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198520	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000162415	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv945916	chr1:45482107-45485685	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
6	nsv945579	chr1:45484262-45485685	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
2	chr1:45479000-45485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:45479000-45493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:45479600-45484400	Weak transcription	Right Ventricle	heart
5	chr1:45480800-45486000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:45480800-45500600	Weak transcription	HepG2	liver
8	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
9	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:45481000-45484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:45481000-45484600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:45481200-45484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
14	chr1:45481200-45510200	Weak transcription	Lung	lung
15	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
17	chr1:45481400-45488000	Weak transcription	Fetal Kidney	kidney
18	chr1:45481400-45500000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:45481600-45484400	Weak transcription	Spleen	Spleen
20	chr1:45481600-45489400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:45481600-45491800	Weak transcription	NHDF-Ad	bronchial
22	chr1:45481600-45498600	Weak transcription	Hela-S3	cervix
23	chr1:45481600-45499800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:45481600-45499800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:45481800-45489600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:45481800-45491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:45481800-45499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:45482000-45490600	Weak transcription	Fetal Lung	lung
29	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:45482800-45484400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:45482800-45484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:45482800-45484400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:45483200-45486200	Weak transcription	K562	blood
34	chr1:45483600-45486200	Strong transcription	Fetal Brain Female	brain
35	chr1:45483800-45484400	Enhancers	NHEK	skin
36	chr1:45484000-45484400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:45484000-45484600	Strong transcription	Right Atrium	heart
38	chr1:45484000-45484800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:45484000-45484800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:45484000-45484800	Enhancers	Liver	Liver
41	chr1:45484000-45484800	Enhancers	Pancreas	Pancrea
42	chr1:45484000-45485800	Strong transcription	Ovary	ovary
43	chr1:45484200-45484400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:45484200-45484400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:45484200-45484400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:45484200-45484400	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:45484200-45484400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:45484200-45484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:45484200-45484400	Enhancers	Primary B cells from peripheral blood	blood
50	chr1:45484200-45484400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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