Variant report

Variant	rs553097895
Chromosome Location	chr20:52276906-52276907
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 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	chr17:59475937..59477859-chr20:52276880..52278926,2	MCF-7	breast:
4	chr20:45985766..45988704-chr20:52276901..52279846,3	MCF-7	breast:
5	chr20:52197847..52200786-chr20:52274972..52277745,2	K562	blood:
6	chr20:52276634..52278992-chr20:52292801..52294676,2	K562	blood:
7	chr20:52207380..52210919-chr20:52274073..52277583,3	K562	blood:
8	chr20:46619897..46622713-chr20:52276800..52278614,2	MCF-7	breast:
9	chr20:45949990..45952457-chr20:52276718..52278460,2	MCF-7	breast:
10	chr20:52275241..52279422-chr20:55839192..55841945,5	MCF-7	breast:
11	chr20:46387498..46391850-chr20:52273368..52277391,5	MCF-7	breast:
12	chr17:77793092..77795595-chr20:52275872..52278371,2	MCF-7	breast:
13	chr17:59954257..59955881-chr20:52276255..52278092,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000267131	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:118 , 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	chr20:52273200-52277200	Weak transcription	HSMMtube	muscle
3	chr20:52274600-52277000	Weak transcription	HSMM	muscle
4	chr20:52274600-52277200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:52274600-52277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:52274600-52277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:52275000-52277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr20:52275600-52277000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr20:52276200-52277000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr20:52276200-52277800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr20:52276400-52277000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr20:52276400-52277000	Active TSS	Fetal Intestine Large	intestine
13	chr20:52276400-52277000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr20:52276400-52277000	Active TSS	NHEK	skin
15	chr20:52276400-52277200	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr20:52276400-52277400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr20:52276400-52277400	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr20:52276400-52277400	Enhancers	HepG2	liver
19	chr20:52276400-52277600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr20:52276400-52277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:52276600-52277000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:52276600-52277000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:52276600-52277000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:52276600-52277000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr20:52276600-52277000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:52276600-52277000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr20:52276600-52277000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:52276600-52277000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr20:52276600-52277000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr20:52276600-52277000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr20:52276600-52277000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr20:52276600-52277000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr20:52276600-52277000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr20:52276600-52277000	Active TSS	Aorta	Aorta
35	chr20:52276600-52277000	Active TSS	Liver	Liver
36	chr20:52276600-52277000	Active TSS	Brain Angular Gyrus	brain
37	chr20:52276600-52277000	Active TSS	Brain Anterior Caudate	brain
38	chr20:52276600-52277000	Active TSS	Brain Hippocampus Middle	brain
39	chr20:52276600-52277000	Active TSS	Colonic Mucosa	Colon
40	chr20:52276600-52277000	Active TSS	Colon Smooth Muscle	Colon
41	chr20:52276600-52277000	Active TSS	Duodenum Mucosa	Duodenum
42	chr20:52276600-52277000	Active TSS	Fetal Brain Female	brain
43	chr20:52276600-52277000	Active TSS	Fetal Intestine Small	intestine
44	chr20:52276600-52277000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr20:52276600-52277000	Flanking Active TSS	Lung	lung
46	chr20:52276600-52277000	Active TSS	Rectal Smooth Muscle	rectum
47	chr20:52276600-52277000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr20:52276600-52277000	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr20:52276600-52277000	Active TSS	Osteobl	bone
50	chr20:52276600-52277200	Active TSS	H9 Cell Line	embryonic stem cell

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