Variant report

Variant	rs73914429
Chromosome Location	chr20:52527351-52527352
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59477246..59479573-chr20:52526014..52528128,2	MCF-7	breast:
2	chr20:52518754..52529234-chr20:55834628..55846143,16	MCF-7	breast:
3	chr20:49378353..49380763-chr20:52526997..52528562,2	MCF-7	breast:
4	chr20:45986485..45988930-chr20:52526541..52529264,2	MCF-7	breast:
5	chr20:52526939..52530902-chr3:43731432..43734302,3	MCF-7	breast:
6	chr20:52523557..52527351-chr20:55838528..55843177,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PFDN4-3	chr20:52527092-52527460	NONHSAT080410

No data

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000160746	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000011198	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

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]
rs59358893	1.00[AMR][1000 genomes]
rs7262342	1.00[EUR][1000 genomes]
rs73275816	1.00[EUR][1000 genomes]
rs73275820	1.00[EUR][1000 genomes]
rs73275830	1.00[AMR][1000 genomes]
rs73914417	1.00[EUR][1000 genomes]
rs73914419	1.00[EUR][1000 genomes]
rs73914427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73914430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73914434	1.00[EUR][1000 genomes]
rs8114189	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	esv3352570	chr20:52527249-52527533	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52516800-52531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr20:52517000-52530800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr20:52518400-52528800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr20:52518600-52529800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:52518600-52532000	Weak transcription	Esophagus	oesophagus
6	chr20:52518800-52531000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr20:52518800-52532000	Weak transcription	Gastric	stomach
8	chr20:52519000-52530800	Weak transcription	Adipose Nuclei	Adipose
9	chr20:52519200-52529000	Weak transcription	Lung	lung
10	chr20:52519200-52530800	Weak transcription	Right Atrium	heart
11	chr20:52520800-52530400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr20:52523800-52528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr20:52523800-52531200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr20:52523800-52531800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr20:52524000-52529800	Weak transcription	HSMM	muscle
16	chr20:52524000-52529800	Weak transcription	HSMMtube	muscle
17	chr20:52524400-52529200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr20:52524800-52530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:52525000-52528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:52525000-52529800	Weak transcription	HMEC	breast
21	chr20:52525000-52529800	Weak transcription	NHEK	skin
22	chr20:52525000-52530000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:52525200-52528000	Weak transcription	K562	blood
24	chr20:52525600-52530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr20:52525600-52530600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr20:52525600-52530800	Weak transcription	Stomach Mucosa	stomach
27	chr20:52525800-52528400	Weak transcription	A549	lung
28	chr20:52525800-52530000	Weak transcription	NHLF	lung
29	chr20:52525800-52530400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr20:52525800-52530800	Weak transcription	Thymus	Thymus
31	chr20:52526000-52528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr20:52526000-52530000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr20:52526000-52530600	Weak transcription	Fetal Kidney	kidney
34	chr20:52526200-52529000	Weak transcription	NHDF-Ad	bronchial
35	chr20:52526200-52529800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr20:52526200-52529800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr20:52526200-52530000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr20:52526200-52530600	Weak transcription	Fetal Intestine Large	intestine
39	chr20:52526200-52530600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr20:52526200-52530800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr20:52526200-52530800	Weak transcription	GM12878-XiMat	blood
42	chr20:52526200-52531000	Weak transcription	Hela-S3	cervix
43	chr20:52526400-52529800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr20:52526400-52530400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr20:52526800-52527600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr20:52526800-52527600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr20:52527000-52530400	Weak transcription	Primary B cells from cord blood	blood
48	chr20:52527000-52530800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr20:52527200-52528600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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