Variant report

Variant	rs8114189
Chromosome Location	chr20:52544704-52544705
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: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	chr20:52543721..52546570-chr20:55840539..55843013,3	MCF-7	breast:
2	chr20:52195026..52195580-chr20:52544642..52545239,2	MCF-7	breast:
3	chr17:59476662..59478395-chr20:52542800..52544822,2	MCF-7	breast:
4	chr20:52539130..52541651-chr20:52543062..52545903,2	K562	blood:
5	chr20:52544141..52550658-chr20:55820732..55827450,8	MCF-7	breast:
6	chr17:59474071..59476919-chr20:52544500..52546021,2	MCF-7	breast:
7	chr20:52542694..52544861-chr20:55839250..55841790,2	MCF-7	breast:
8	chr20:52194001..52196032-chr20:52543361..52545699,2	K562	blood:
9	chr20:52544378..52546846-chr20:55731030..55732563,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000267280	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16998499	1.00[EUR][1000 genomes]
rs16998502	1.00[EUR][1000 genomes]
rs16998533	1.00[EUR][1000 genomes]
rs57886257	1.00[EUR][1000 genomes]
rs58979406	1.00[EUR][1000 genomes]
rs59046998	1.00[EUR][1000 genomes]
rs7262342	1.00[EUR][1000 genomes]
rs73275816	1.00[EUR][1000 genomes]
rs73275820	1.00[EUR][1000 genomes]
rs73914417	1.00[EUR][1000 genomes]
rs73914419	1.00[EUR][1000 genomes]
rs73914429	1.00[EUR][1000 genomes]
rs73914430	1.00[EUR][1000 genomes]
rs73914434	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8114866	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52534200-52550200	Weak transcription	Fetal Thymus	thymus
2	chr20:52535200-52550000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:52537600-52545000	Enhancers	Primary B cells from peripheral blood	blood
4	chr20:52538400-52553400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:52543200-52550400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr20:52543200-52550600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr20:52543400-52546400	Weak transcription	Spleen	Spleen
8	chr20:52543400-52547200	Weak transcription	NHDF-Ad	bronchial
9	chr20:52543400-52550600	Weak transcription	Fetal Kidney	kidney
10	chr20:52543600-52544800	Enhancers	HepG2	liver
11	chr20:52543600-52545200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr20:52543600-52546600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:52543600-52547000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:52543600-52547000	Weak transcription	HSMM	muscle
15	chr20:52543600-52547000	Weak transcription	K562	blood
16	chr20:52543600-52547200	Weak transcription	HSMMtube	muscle
17	chr20:52543600-52547200	Weak transcription	NHLF	lung
18	chr20:52543600-52548200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr20:52543600-52550000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr20:52543600-52550400	Weak transcription	Placenta	Placenta
21	chr20:52543600-52551000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr20:52543600-52556000	Weak transcription	Aorta	Aorta
23	chr20:52543800-52546200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr20:52543800-52546600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr20:52543800-52546800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr20:52543800-52547000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr20:52543800-52547200	Weak transcription	Osteobl	bone
28	chr20:52543800-52547400	Weak transcription	Hela-S3	cervix
29	chr20:52543800-52550000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr20:52543800-52550200	Weak transcription	Fetal Muscle Leg	muscle
31	chr20:52543800-52550400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr20:52543800-52551200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr20:52543800-52555000	Weak transcription	Stomach Mucosa	stomach
34	chr20:52544000-52546000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr20:52544000-52547000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr20:52544200-52546200	Enhancers	GM12878-XiMat	blood
37	chr20:52544200-52547200	Weak transcription	NH-A	brain
38	chr20:52544400-52545600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr20:52544400-52545800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr20:52544400-52546000	Weak transcription	Primary B cells from cord blood	blood
41	chr20:52544400-52546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:52544400-52546800	Weak transcription	NHEK	skin
43	chr20:52544400-52547000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:52544400-52547000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:52544400-52547000	Weak transcription	A549	lung
46	chr20:52544400-52550000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr20:52544600-52544800	Enhancers	Lung	lung
48	chr20:52544600-52545800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr20:52544600-52546800	Weak transcription	HMEC	breast
50	chr20:52544600-52549800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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