Variant report

Variant	rs56038390
Chromosome Location	chr21:16582710-16582711
allele	A/G
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:59)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:16377732..16380502-chr21:16580282..16582809,3	MCF-7	breast:
2	chr21:16375433..16376422-chr21:16582244..16583115,4	MCF-7	breast:
3	chr21:16377016..16378255-chr21:16582184..16583282,13	MCF-7	breast:
4	chr21:16580196..16583993-chr21:16711928..16716549,7	MCF-7	breast:
5	chr21:16545028..16546143-chr21:16581995..16583350,24	MCF-7	breast:
6	chr21:16571538..16572982-chr21:16582327..16583133,7	MCF-7	breast:
7	chr21:16582323..16583272-chr21:16816273..16817233,8	MCF-7	breast:
8	chr21:16582273..16583140-chr21:16628406..16628952,2	MCF-7	breast:
9	chr21:16377438..16378251-chr21:16582355..16583155,4	MCF-7	breast:
10	chr21:16582349..16582918-chr21:16714738..16715458,2	MCF-7	breast:
11	chr21:16249809..16250331-chr21:16582564..16583189,2	MCF-7	breast:
12	chr21:16375401..16376400-chr21:16581899..16583233,5	MCF-7	breast:
13	chr21:16582221..16583302-chr21:16958882..16959791,8	MCF-7	breast:
14	chr21:16581111..16587442-chr21:16661859..16666667,10	MCF-7	breast:
15	chr21:16234850..16238981-chr21:16579060..16583340,5	MCF-7	breast:
16	chr21:16582189..16583291-chr21:16958890..16959931,32	MCF-7	breast:
17	chr21:16582567..16583313-chr21:16614075..16614852,2	MCF-7	breast:
18	chr14:99603512..99604012-chr21:16582594..16583180,2	MCF-7	breast:
19	chr21:16582509..16583134-chr4:55872360..55872860,2	MCF-7	breast:
20	chr21:16582289..16583203-chr21:16854473..16855689,3	MCF-7	breast:
21	chr21:16248533..16251618-chr21:16578938..16584306,4	MCF-7	breast:
22	chr21:16545306..16546015-chr21:16582395..16583044,2	MCF-7	breast:
23	chr21:16543363..16545459-chr21:16581109..16583907,2	MCF-7	breast:
24	chr21:16375433..16376422-chr21:16582096..16583242,10	MCF-7	breast:
25	chr21:16582092..16583222-chr21:16714611..16715771,13	MCF-7	breast:
26	chr21:15677109..15679201-chr21:16581226..16583119,2	MCF-7	breast:
27	chr21:15678271..15679097-chr21:16582211..16583261,3	MCF-7	breast:
28	chr21:16577077..16584288-chr21:16662087..16667374,8	MCF-7	breast:
29	chr21:16504891..16505709-chr21:16582252..16583395,5	MCF-7	breast:
30	chr21:16582341..16583272-chr21:16816273..16817233,15	MCF-7	breast:
31	chr21:16580777..16584780-chr21:16852967..16856651,5	MCF-7	breast:
32	chr21:16249728..16250455-chr21:16582309..16583013,2	MCF-7	breast:
33	chr19:39899573..39900222-chr21:16582335..16583110,2	MCF-7	breast:
34	chr21:16582142..16583084-chr21:16919391..16920395,4	MCF-7	breast:
35	chr21:16504749..16505697-chr21:16582211..16583356,7	MCF-7	breast:
36	chr21:16235506..16236268-chr21:16582287..16582963,3	MCF-7	breast:
37	chr21:16235351..16235999-chr21:16582483..16583245,2	MCF-7	breast:
38	chr21:16545079..16546143-chr21:16581995..16583288,32	MCF-7	breast:
39	chr21:16429926..16439498-chr21:16561851..16585948,113	MCF-7	breast:
40	chr21:16571625..16572981-chr21:16582195..16583291,25	MCF-7	breast:
41	chr21:16377394..16378337-chr21:16582265..16583270,3	MCF-7	breast:
42	chr21:16571618..16573167-chr21:16582264..16583152,8	MCF-7	breast:
43	chr21:16545040..16546076-chr21:16582206..16583228,5	MCF-7	breast:
44	chr21:16582236..16583265-chr21:16714576..16715556,7	MCF-7	breast:
45	chr21:16421751..16443998-chr21:16557859..16589610,273	MCF-7	breast:
46	chr21:16582204..16583291-chr21:16958900..16960163,20	MCF-7	breast:
47	chr21:16582346..16583017-chr21:16654840..16655533,2	MCF-7	breast:
48	chr21:16571818..16572996-chr21:16582415..16583526,5	MCF-7	breast:
49	chr21:16582443..16583127-chr21:16816309..16817103,2	MCF-7	breast:
50	chr21:16571823..16572955-chr21:16581851..16583286,29	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction
ENSG00000236471	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1997595	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1997596	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823139	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823140	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16576200-16585600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr21:16577600-16584000	Weak transcription	Right Ventricle	heart
3	chr21:16578400-16583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr21:16579400-16583000	Enhancers	Placenta	Placenta
5	chr21:16579600-16583200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:16579600-16584400	Enhancers	Hela-S3	cervix
7	chr21:16579600-16584800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr21:16580800-16583200	Enhancers	HMEC	breast
9	chr21:16581000-16583000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr21:16581000-16583000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:16581000-16583000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:16581000-16583000	Enhancers	NHEK	skin
13	chr21:16581000-16583200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:16581000-16585400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:16581200-16583000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr21:16581200-16583400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:16581600-16583000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:16581800-16583200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr21:16582000-16583200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr21:16582000-16584200	Enhancers	Adipose Nuclei	Adipose
21	chr21:16582200-16583400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:16582400-16582800	Active TSS	A549	lung
23	chr21:16582400-16583000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr21:16582400-16583000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr21:16582400-16584400	Flanking Active TSS	Liver	Liver
26	chr21:16582400-16585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr21:16582600-16582800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr21:16582600-16583000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:16582600-16583000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:16582600-16583000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:16582600-16583000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:16582600-16583000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:16582600-16583000	Enhancers	Esophagus	oesophagus
34	chr21:16582600-16583000	Enhancers	Gastric	stomach
35	chr21:16582600-16583000	Enhancers	Left Ventricle	heart
36	chr21:16582600-16583000	Enhancers	Lung	lung
37	chr21:16582600-16583000	Enhancers	Pancreas	Pancrea
38	chr21:16582600-16583000	Enhancers	Psoas Muscle	Psoas
39	chr21:16582600-16583000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr21:16582600-16583000	Enhancers	Right Atrium	heart
41	chr21:16582600-16583000	Enhancers	Spleen	Spleen
42	chr21:16582600-16583200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr21:16582600-16583200	Enhancers	Stomach Mucosa	stomach
44	chr21:16582600-16583600	Enhancers	Fetal Intestine Large	intestine
45	chr21:16582600-16583800	Flanking Active TSS	HepG2	liver
46	chr21:16582600-16584400	Enhancers	Fetal Intestine Small	intestine

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