Variant report

Variant	rs549040375
Chromosome Location	chr20:52276627-52276628
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	chr17:57920531..57923072-chr20:52274126..52278253,4	MCF-7	breast:
2	chr1:151030704..151033021-chr20:52275086..52277981,2	MCF-7	breast:
3	chr20:52197847..52200786-chr20:52274972..52277745,2	K562	blood:
4	chr20:52207380..52210919-chr20:52274073..52277583,3	K562	blood:
5	chr10:103453465..103455158-chr20:52273844..52276736,2	MCF-7	breast:
6	chr20:52275241..52279422-chr20:55839192..55841945,5	MCF-7	breast:
7	chr20:46387498..46391850-chr20:52273368..52277391,5	MCF-7	breast:
8	chr17:77793092..77795595-chr20:52275872..52278371,2	MCF-7	breast:
9	chr17:59954257..59955881-chr20:52276255..52278092,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000107829	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834006	chr20:52182498-52309366	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv586209	chr20:52204062-52289243	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	160 gene(s)	inside rSNPs	diseases
5	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
6	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
7	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
9	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
10	nsv517172	chr20:52276452-52289243	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
11	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52270000-52277000	Weak transcription	Fetal Heart	heart
2	chr20:52273200-52276800	Weak transcription	Stomach Mucosa	stomach
3	chr20:52273200-52277200	Weak transcription	HSMMtube	muscle
4	chr20:52274200-52276800	Weak transcription	Dnd41	blood
5	chr20:52274400-52276800	Weak transcription	Fetal Kidney	kidney
6	chr20:52274600-52276800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr20:52274600-52277000	Weak transcription	HSMM	muscle
8	chr20:52274600-52277200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:52274600-52277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:52274600-52277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:52274800-52276800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:52275000-52277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr20:52275200-52276800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr20:52275200-52276800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr20:52275200-52276800	Weak transcription	NHDF-Ad	bronchial
16	chr20:52275600-52277000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr20:52276200-52276800	Enhancers	Fetal Lung	lung
18	chr20:52276200-52276800	Active TSS	Placenta	Placenta
19	chr20:52276200-52277000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr20:52276200-52277800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr20:52276400-52276800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr20:52276400-52276800	Active TSS	Primary hematopoietic stem cells	blood
23	chr20:52276400-52276800	Active TSS	A549	lung
24	chr20:52276400-52276800	Active TSS	GM12878-XiMat	blood
25	chr20:52276400-52276800	Active TSS	HUVEC	blood vessel
26	chr20:52276400-52276800	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr20:52276400-52277000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr20:52276400-52277000	Active TSS	Fetal Intestine Large	intestine
29	chr20:52276400-52277000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr20:52276400-52277000	Active TSS	NHEK	skin
31	chr20:52276400-52277200	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr20:52276400-52277400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr20:52276400-52277400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr20:52276400-52277400	Enhancers	HepG2	liver
35	chr20:52276400-52277600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:52276400-52277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:52276600-52276800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr20:52276600-52276800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr20:52276600-52276800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr20:52276600-52276800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr20:52276600-52276800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr20:52276600-52276800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr20:52276600-52276800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:52276600-52276800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:52276600-52276800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr20:52276600-52276800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr20:52276600-52276800	Active TSS	Adipose Nuclei	Adipose
48	chr20:52276600-52276800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr20:52276600-52276800	Active TSS	Esophagus	oesophagus
50	chr20:52276600-52276800	Enhancers	Fetal Brain Male	brain

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