Variant report

Variant	rs73367824
Chromosome Location	chr21:45026557-45026558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44845988..44848320-chr21:45024628..45026638,2	MCF-7	breast:
2	chr21:45024840..45027309-chr21:45029580..45031203,2	MCF-7	breast:
3	chr21:45024177..45026924-chr21:45138314..45140711,3	MCF-7	breast:
4	chr21:45006048..45008566-chr21:45024329..45026628,2	MCF-7	breast:
5	chr21:44921368..44924972-chr21:45021207..45026616,5	MCF-7	breast:
6	chr21:45009805..45012198-chr21:45024361..45026780,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction
ENSG00000160209	Chromatin interaction

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	0.81[AFR][1000 genomes]
rs73365870	1.00[EUR][1000 genomes]
rs73367806	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73367835	0.82[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	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
10	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
11	esv3449507	chr21:45022824-45026922	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45016400-45026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:45017200-45029000	Weak transcription	Fetal Intestine Small	intestine
3	chr21:45019000-45026600	Enhancers	Fetal Thymus	thymus
4	chr21:45020400-45028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:45021200-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:45021400-45027000	Enhancers	HSMMtube	muscle
7	chr21:45021400-45029400	Weak transcription	Fetal Brain Female	brain
8	chr21:45024000-45029400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr21:45024200-45026600	Enhancers	Lung	lung
10	chr21:45024200-45027800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:45024200-45028800	Weak transcription	Fetal Heart	heart
12	chr21:45024200-45029400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:45024400-45027800	Weak transcription	Osteobl	bone
14	chr21:45024400-45029400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:45024400-45030600	Enhancers	NHEK	skin
16	chr21:45024600-45027800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr21:45025000-45026600	Enhancers	HSMM	muscle
18	chr21:45025000-45027000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:45025000-45027000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr21:45025000-45029000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr21:45025000-45029000	Weak transcription	Fetal Lung	lung
22	chr21:45025000-45029400	Weak transcription	NHLF	lung
23	chr21:45025000-45029600	Weak transcription	Fetal Brain Male	brain
24	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:45025000-45029600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr21:45025200-45029400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr21:45025200-45029400	Weak transcription	Pancreas	Pancrea
28	chr21:45025200-45029400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr21:45025400-45029400	Weak transcription	Esophagus	oesophagus
30	chr21:45025600-45026600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr21:45025600-45029400	Weak transcription	Right Ventricle	heart
32	chr21:45025600-45030400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr21:45025800-45026600	Enhancers	Fetal Muscle Leg	muscle
34	chr21:45025800-45026600	Enhancers	Fetal Stomach	stomach
35	chr21:45025800-45026800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:45025800-45026800	Enhancers	A549	lung
37	chr21:45025800-45026800	Enhancers	HUVEC	blood vessel
38	chr21:45025800-45029400	Weak transcription	Gastric	stomach
39	chr21:45025800-45029400	Weak transcription	Stomach Mucosa	stomach
40	chr21:45026000-45026600	Enhancers	Adipose Nuclei	Adipose
41	chr21:45026000-45026600	Enhancers	Colonic Mucosa	Colon
42	chr21:45026000-45029400	Weak transcription	Brain Hippocampus Middle	brain
43	chr21:45026200-45026600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr21:45026200-45026600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr21:45026200-45026600	Enhancers	Left Ventricle	heart
46	chr21:45026200-45026600	Enhancers	Right Atrium	heart
47	chr21:45026200-45026800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:45026200-45026800	Enhancers	NH-A	brain
49	chr21:45026200-45029400	Enhancers	HepG2	liver
50	chr21:45026200-45029600	Weak transcription	Rectal Mucosa Donor 29	rectum

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