Variant report

Variant	rs561332176
Chromosome Location	chr20:52277276-52277277
allele	G/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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 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	chr1:182353766..182355662-chr20:52277139..52279207,2	MCF-7	breast:
12	chr20:45949990..45952457-chr20:52276718..52278460,2	MCF-7	breast:
13	chr20:52275241..52279422-chr20:55839192..55841945,5	MCF-7	breast:
14	chr20:46387498..46391850-chr20:52273368..52277391,5	MCF-7	breast:
15	chr17:77793092..77795595-chr20:52275872..52278371,2	MCF-7	breast:
16	chr17:59954257..59955881-chr20:52276255..52278092,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101144	Chromatin interaction
ENSG00000135821	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000197622	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52274600-52277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:52274600-52277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:52276200-52277800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr20:52276400-52277400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr20:52276400-52277400	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr20:52276400-52277400	Enhancers	HepG2	liver
7	chr20:52276400-52277600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr20:52276400-52277800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:52276600-52277400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr20:52276600-52277400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:52276600-52277600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr20:52276600-52277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr20:52276600-52277800	Enhancers	Small Intestine	intestine
14	chr20:52276600-52278000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr20:52276600-52278200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr20:52276600-52278400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr20:52276800-52277400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr20:52276800-52277400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr20:52276800-52277400	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr20:52276800-52277400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr20:52276800-52277600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr20:52276800-52277600	Flanking Active TSS	Fetal Thymus	thymus
23	chr20:52276800-52277600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr20:52276800-52277600	Flanking Active TSS	A549	lung
25	chr20:52276800-52277600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr20:52276800-52277800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr20:52276800-52277800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:52276800-52277800	Flanking Active TSS	NHDF-Ad	bronchial
29	chr20:52276800-52278000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr20:52276800-52278600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr20:52276800-52278600	Enhancers	Dnd41	blood
32	chr20:52276800-52278600	Flanking Active TSS	GM12878-XiMat	blood
33	chr20:52277000-52277400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:52277000-52277400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr20:52277000-52277400	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr20:52277000-52277400	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr20:52277000-52277400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr20:52277000-52277400	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr20:52277000-52277400	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr20:52277000-52277400	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr20:52277000-52277400	Flanking Active TSS	Fetal Kidney	kidney
42	chr20:52277000-52277400	Active TSS	Right Atrium	heart
43	chr20:52277000-52277400	Flanking Active TSS	Stomach Mucosa	stomach
44	chr20:52277000-52277400	Flanking Active TSS	NHEK	skin
45	chr20:52277000-52277400	Flanking Active TSS	Osteobl	bone
46	chr20:52277000-52277600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr20:52277000-52277600	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr20:52277000-52277600	Enhancers	Fetal Heart	heart
49	chr20:52277000-52277600	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr20:52277000-52277600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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