Variant report

Variant	rs114280438
Chromosome Location	chr21:45023896-45023897
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44846502..44848207-chr21:45022437..45025863,3	MCF-7	breast:
2	chr21:44921368..44924972-chr21:45021207..45026616,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3385508	chr21:45022724-45026422	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	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
13	esv3334623	chr21:45023024-45026422	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:45013800-45025000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr21:45016200-45025000	Enhancers	HMEC	breast
5	chr21:45016400-45024200	Enhancers	HSMM	muscle
6	chr21:45016400-45024400	Enhancers	Osteobl	bone
7	chr21:45016400-45026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:45017200-45024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:45017200-45029000	Weak transcription	Fetal Intestine Small	intestine
10	chr21:45017600-45024200	Enhancers	NHEK	skin
11	chr21:45018000-45024400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:45018400-45024600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:45019000-45024400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr21:45019000-45026600	Enhancers	Fetal Thymus	thymus
15	chr21:45020000-45024600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:45020200-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:45020400-45028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:45020600-45024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:45021000-45024800	Enhancers	A549	lung
20	chr21:45021200-45024200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:45021200-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:45021400-45027000	Enhancers	HSMMtube	muscle
23	chr21:45021400-45029400	Weak transcription	Fetal Brain Female	brain
24	chr21:45021800-45025200	Enhancers	Thymus	Thymus
25	chr21:45022200-45024200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:45022200-45024200	Enhancers	Fetal Muscle Leg	muscle
27	chr21:45022200-45024400	Enhancers	Left Ventricle	heart
28	chr21:45022200-45024400	Enhancers	NH-A	brain
29	chr21:45022200-45024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr21:45022200-45024800	Enhancers	Adipose Nuclei	Adipose
31	chr21:45022200-45025000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr21:45022200-45025000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr21:45022400-45024000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:45022400-45025800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:45022600-45024400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr21:45022600-45025000	Enhancers	Right Ventricle	heart
37	chr21:45022600-45025200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr21:45022800-45024600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:45023000-45024000	Enhancers	Spleen	Spleen
40	chr21:45023000-45025000	Enhancers	NHLF	lung
41	chr21:45023200-45024000	Weak transcription	Fetal Lung	lung
42	chr21:45023200-45024000	Enhancers	Fetal Muscle Trunk	muscle
43	chr21:45023200-45024000	Weak transcription	Pancreas	Pancrea
44	chr21:45023200-45024200	Enhancers	Fetal Heart	heart
45	chr21:45023200-45024200	Enhancers	Placenta	Placenta
46	chr21:45023200-45024800	Enhancers	NHDF-Ad	bronchial
47	chr21:45023400-45024000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr21:45023400-45024200	Weak transcription	Lung	lung
49	chr21:45023400-45024600	Weak transcription	Right Atrium	heart
50	chr21:45023400-45024800	Enhancers	HepG2	liver

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