Variant report

Variant	rs73914434
Chromosome Location	chr20:52541879-52541880
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52540309..52542377-chr20:52728654..52731257,2	MCF-7	breast:
2	chr20:52539762..52542004-chr20:55843238..55846189,2	MCF-7	breast:
3	chr17:56735368..56736980-chr20:52540409..52543202,2	MCF-7	breast:
4	chr20:52366648..52369219-chr20:52540628..52542545,2	K562	blood:
5	chr20:52540694..52543135-chr20:55840789..55842490,2	MCF-7	breast:
6	chr20:52540901..52543221-chr20:55849031..55851465,2	MCF-7	breast:
7	chr2:121002675..121004421-chr20:52541495..52544267,2	MCF-7	breast:
8	chr20:52541172..52543352-chr20:55784831..55788483,3	MCF-7	breast:
9	chr20:45983949..45986345-chr20:52540862..52542712,2	MCF-7	breast:
10	chr12:123010177..123012881-chr20:52539872..52541960,2	MCF-7	breast:
11	chr20:52541071..52543392-chr20:52866334..52868827,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000111011	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000184445	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

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]
rs73914433	0.94[AFR][1000 genomes]
rs8114189	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52532400-52542600	Weak transcription	Gastric	stomach
2	chr20:52533400-52542600	Weak transcription	Small Intestine	intestine
3	chr20:52533800-52542600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr20:52533800-52543200	Weak transcription	Left Ventricle	heart
5	chr20:52534200-52542600	Weak transcription	Fetal Intestine Large	intestine
6	chr20:52534200-52550200	Weak transcription	Fetal Thymus	thymus
7	chr20:52534400-52542600	Weak transcription	Right Atrium	heart
8	chr20:52534400-52542800	Weak transcription	Right Ventricle	heart
9	chr20:52534600-52542600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr20:52534600-52542800	Weak transcription	Fetal Lung	lung
11	chr20:52534800-52542400	Weak transcription	NH-A	brain
12	chr20:52534800-52542600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr20:52534800-52542800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:52534800-52542800	Weak transcription	Fetal Muscle Leg	muscle
15	chr20:52534800-52543000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr20:52535000-52542600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:52535200-52542600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr20:52535200-52550000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:52535600-52542600	Weak transcription	K562	blood
20	chr20:52536000-52543400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr20:52537400-52544400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr20:52537600-52542800	Weak transcription	Fetal Kidney	kidney
23	chr20:52537600-52545000	Enhancers	Primary B cells from peripheral blood	blood
24	chr20:52538000-52543000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr20:52538400-52542200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr20:52538400-52543000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr20:52538400-52544200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:52538400-52553400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr20:52538600-52542800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr20:52538600-52543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr20:52538600-52543200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr20:52539400-52542800	Weak transcription	Placenta	Placenta
33	chr20:52539800-52542400	Enhancers	Primary B cells from cord blood	blood
34	chr20:52539800-52542600	Weak transcription	Primary T cells from cord blood	blood
35	chr20:52539800-52542600	Weak transcription	HSMM	muscle
36	chr20:52539800-52542600	Weak transcription	HSMMtube	muscle
37	chr20:52540000-52542600	Weak transcription	NHEK	skin
38	chr20:52540200-52542600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr20:52540400-52542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr20:52540400-52542400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr20:52540400-52542600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr20:52540400-52542600	Weak transcription	NHLF	lung
43	chr20:52540600-52542400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr20:52540600-52542400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:52540600-52542400	Weak transcription	Osteobl	bone
46	chr20:52540600-52542600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr20:52540600-52543200	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr20:52540800-52542400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr20:52540800-52542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr20:52540800-52542400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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