Variant report

Variant	rs552684887
Chromosome Location	chr20:52277411-52277412
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 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	chr20:52209812..52210750-chr20:52277141..52278086,2	MCF-7	breast:
5	chr20:45985766..45988704-chr20:52276901..52279846,3	MCF-7	breast:
6	chr20:52197847..52200786-chr20:52274972..52277745,2	K562	blood:
7	chr20:52276634..52278992-chr20:52292801..52294676,2	K562	blood:
8	chr20:52207380..52210919-chr20:52274073..52277583,3	K562	blood:
9	chr20:46619897..46622713-chr20:52276800..52278614,2	MCF-7	breast:
10	chr20:52277061..52277868-chr7:120704397..120705347,2	MCF-7	breast:
11	chr20:52277347..52278945-chr20:52765329..52766278,10	MCF-7	breast:
12	chr20:52277294..52279004-chr20:52341320..52342426,29	MCF-7	breast:
13	chr1:182353766..182355662-chr20:52277139..52279207,2	MCF-7	breast:
14	chr20:45949990..45952457-chr20:52276718..52278460,2	MCF-7	breast:
15	chr20:52275241..52279422-chr20:55839192..55841945,5	MCF-7	breast:
16	chr20:52277378..52279205-chr20:55847044..55849941,2	MCF-7	breast:
17	chr17:77793092..77795595-chr20:52275872..52278371,2	MCF-7	breast:
18	chr17:59954257..59955881-chr20:52276255..52278092,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000135821	Chromatin interaction
ENSG00000171940	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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52276200-52277800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr20:52276400-52277600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr20:52276400-52277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:52276600-52277600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr20:52276600-52277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr20:52276600-52277800	Enhancers	Small Intestine	intestine
7	chr20:52276600-52278000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr20:52276600-52278200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr20:52276600-52278400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr20:52276800-52277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:52276800-52277600	Flanking Active TSS	Fetal Thymus	thymus
12	chr20:52276800-52277600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr20:52276800-52277600	Flanking Active TSS	A549	lung
14	chr20:52276800-52277600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr20:52276800-52277800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:52276800-52277800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:52276800-52277800	Flanking Active TSS	NHDF-Ad	bronchial
18	chr20:52276800-52278000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr20:52276800-52278600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr20:52276800-52278600	Enhancers	Dnd41	blood
21	chr20:52276800-52278600	Flanking Active TSS	GM12878-XiMat	blood
22	chr20:52277000-52277600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr20:52277000-52277600	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr20:52277000-52277600	Enhancers	Fetal Heart	heart
25	chr20:52277000-52277600	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr20:52277000-52277600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr20:52277000-52277800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr20:52277000-52277800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr20:52277000-52277800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr20:52277000-52277800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr20:52277000-52277800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr20:52277000-52277800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr20:52277000-52277800	Enhancers	HSMM	muscle
34	chr20:52277000-52278000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:52277000-52278000	Weak transcription	Gastric	stomach
36	chr20:52277000-52278200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr20:52277000-52278400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr20:52277000-52278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr20:52277000-52278400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr20:52277000-52278600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr20:52277000-52279600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr20:52277000-52290800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr20:52277200-52277600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr20:52277200-52277600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr20:52277200-52277600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr20:52277200-52277600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr20:52277200-52277600	Enhancers	Colonic Mucosa	Colon
48	chr20:52277200-52277600	Enhancers	Fetal Lung	lung
49	chr20:52277200-52277600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr20:52277200-52277600	Flanking Active TSS	Thymus	Thymus

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