Variant report

Variant	rs142720116
Chromosome Location	chr20:52391641-52391642
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52382904..52385794-chr20:52390290..52392254,2	K562	blood:
2	chr20:52390917..52393091-chr20:55841679..55843689,2	MCF-7	breast:
3	chr17:56708353..56710257-chr20:52391606..52394315,2	MCF-7	breast:
4	chr20:52390713..52393144-chr20:52838383..52839973,2	MCF-7	breast:
5	chr11:85396411..85399153-chr20:52390858..52392861,2	MCF-7	breast:
6	chr20:52391167..52393135-chr20:52407671..52409754,2	K562	blood:
7	chr17:57916023..57918141-chr20:52390643..52392625,2	MCF-7	breast:
8	chr17:57930644..57932261-chr20:52388672..52392244,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179071	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
5	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
6	nsv1057509	chr20:52390002-52431309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
7	esv3347191	chr20:52391640-52394708	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52381000-52394600	Weak transcription	Right Atrium	heart
2	chr20:52384400-52394800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr20:52385400-52392400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr20:52388800-52392000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:52389000-52391800	Enhancers	HSMMtube	muscle
6	chr20:52389000-52392000	Enhancers	HMEC	breast
7	chr20:52389000-52392000	Enhancers	NHEK	skin
8	chr20:52389400-52392000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr20:52389400-52392200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr20:52389600-52391800	Enhancers	Fetal Muscle Leg	muscle
11	chr20:52389800-52391800	Enhancers	Hela-S3	cervix
12	chr20:52389800-52392000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:52390000-52391800	Enhancers	Adipose Nuclei	Adipose
14	chr20:52390000-52391800	Enhancers	Fetal Stomach	stomach
15	chr20:52390000-52391800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr20:52390000-52391800	Enhancers	HUVEC	blood vessel
17	chr20:52390200-52391800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr20:52390200-52391800	Flanking Active TSS	A549	lung
19	chr20:52390200-52403400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:52390400-52395000	Enhancers	HepG2	liver
21	chr20:52390600-52394200	Weak transcription	Liver	Liver
22	chr20:52390800-52391800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:52390800-52391800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:52390800-52391800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr20:52390800-52391800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:52390800-52391800	Flanking Active TSS	NH-A	brain
27	chr20:52390800-52391800	Flanking Active TSS	Osteobl	bone
28	chr20:52390800-52392000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:52391000-52391800	Enhancers	Pancreas	Pancrea
30	chr20:52391200-52391800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:52391200-52392000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:52391200-52394400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr20:52391400-52392400	Enhancers	HSMM	muscle
34	chr20:52391400-52394600	Weak transcription	Placenta	Placenta
35	chr20:52391400-52394600	Weak transcription	Stomach Mucosa	stomach
36	chr20:52391600-52392000	Enhancers	NHLF	lung
37	chr20:52391600-52392400	Enhancers	NHDF-Ad	bronchial
38	chr20:52391600-52394600	Weak transcription	Small Intestine	intestine

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