Variant report

Variant	rs555400200
Chromosome Location	chr21:45016257-45016258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45015645..45018360-chr21:45028060..45029988,2	MCF-7	breast:
2	chr21:45015801..45017430-chr21:45020275..45022626,2	MCF-7	breast:
3	chr21:44929401..44931508-chr21:45015628..45019409,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	nsv187429	chr21:45015641-45018270	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
3	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:45007000-45016400	Weak transcription	NHLF	lung
5	chr21:45008000-45020000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr21:45009200-45020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr21:45010800-45016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:45010800-45016400	Weak transcription	NHEK	skin
9	chr21:45012000-45016400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:45012200-45016400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:45012200-45016400	Weak transcription	Osteobl	bone
12	chr21:45012800-45016400	Weak transcription	HSMMtube	muscle
13	chr21:45012800-45016800	Weak transcription	Fetal Intestine Small	intestine
14	chr21:45013200-45022200	Weak transcription	Adipose Nuclei	Adipose
15	chr21:45013400-45016400	Weak transcription	Hela-S3	cervix
16	chr21:45013800-45025000	Enhancers	Placenta Amnion	Placenta Amnion
17	chr21:45014200-45016400	Weak transcription	HSMM	muscle
18	chr21:45014800-45018600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:45015400-45016400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:45015600-45016600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:45015800-45017200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:45015800-45018600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr21:45015800-45019600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:45016000-45018400	Enhancers	A549	lung
25	chr21:45016200-45017400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:45016200-45017400	Enhancers	HepG2	liver
27	chr21:45016200-45017800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:45016200-45019200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr21:45016200-45021800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:45016200-45025000	Enhancers	HMEC	breast

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