Variant report

Variant	rs73367810
Chromosome Location	chr21:45010118-45010119
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	chr21:45009002..45010777-chr21:45012322..45015195,2	MCF-7	breast:
2	chr21:45009805..45012198-chr21:45024361..45026780,3	MCF-7	breast:
3	chr21:44582998..44585767-chr21:45009273..45011214,2	MCF-7	breast:
4	chr21:44921737..44923548-chr21:45008826..45011087,2	MCF-7	breast:
5	chr21:45009238..45012189-chr21:45029511..45032580,3	MCF-7	breast:
6	chr21:45009791..45011592-chr21:45019130..45020686,2	MCF-7	breast:
7	chr21:44934887..44937881-chr21:45009259..45012818,3	MCF-7	breast:
8	chr21:44920665..44924347-chr21:45008352..45010476,3	MCF-7	breast:
9	chr21:45005141..45010452-chr21:45028185..45033118,8	MCF-7	breast:

No data

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs73365852	1.00[EUR][1000 genomes]
rs73365858	0.90[AFR][1000 genomes]
rs73365870	1.00[EUR][1000 genomes]
rs73367806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367824	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367835	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv3537	chr21:44967340-45013104	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45004600-45014200	Enhancers	HepG2	liver
3	chr21:45005000-45011800	Enhancers	HMEC	breast
4	chr21:45005400-45011800	Enhancers	Fetal Intestine Small	intestine
5	chr21:45005600-45010400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:45006000-45010400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr21:45006000-45010400	Enhancers	Fetal Intestine Large	intestine
8	chr21:45006000-45011200	Weak transcription	Psoas Muscle	Psoas
9	chr21:45006000-45012600	Weak transcription	Ovary	ovary
10	chr21:45006200-45011600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:45006200-45012000	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
13	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr21:45006400-45013400	Enhancers	Hela-S3	cervix
15	chr21:45006600-45010200	Weak transcription	NHDF-Ad	bronchial
16	chr21:45006600-45015200	Enhancers	A549	lung
17	chr21:45006800-45010200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:45006800-45010200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:45006800-45010600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:45006800-45010800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:45006800-45012800	Weak transcription	Adipose Nuclei	Adipose
22	chr21:45007000-45010200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:45007000-45016400	Weak transcription	NHLF	lung
24	chr21:45007200-45010600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr21:45007200-45011200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:45008000-45020000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:45008600-45010800	Enhancers	NHEK	skin
28	chr21:45008600-45011200	Enhancers	HSMM	muscle
29	chr21:45008600-45012200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:45008800-45010800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:45009000-45011600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:45009000-45012800	Enhancers	HSMMtube	muscle
33	chr21:45009200-45010400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:45009200-45011400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:45009200-45020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:45009400-45011200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:45009600-45010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:45009600-45012200	Enhancers	Osteobl	bone
39	chr21:45009600-45016200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:45009800-45010800	Enhancers	NH-A	brain
41	chr21:45010000-45010600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr21:45010000-45012200	Enhancers	HUVEC	blood vessel

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