Variant report

Variant	rs8127287
Chromosome Location	chr21:44994075-44994076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44992733..44995212-chr21:44995916..44999586,3	MCF-7	breast:
2	chr21:44987407..44990034-chr21:44993594..44995506,2	K562	blood:
3	chr21:44989424..44992268-chr21:44992399..44995475,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17004570	1.00[CEU][hapmap]
rs2117983	0.92[EUR][1000 genomes]
rs2838307	1.00[CEU][hapmap]
rs4819308	1.00[CEU][hapmap]
rs58359181	1.00[EUR][1000 genomes]
rs60365395	0.88[EUR][1000 genomes]
rs60400332	1.00[EUR][1000 genomes]
rs60776319	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61060243	0.92[EUR][1000 genomes]
rs73908372	0.83[AMR][1000 genomes]
rs766241	1.00[CEU][hapmap]
rs9975103	1.00[CEU][hapmap]
rs9983102	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44980400-44998400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:44987200-44994600	Weak transcription	Spleen	Spleen
3	chr21:44987200-45005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:44987200-45005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:44988800-44996600	Enhancers	HSMMtube	muscle
6	chr21:44989000-44998000	Weak transcription	Gastric	stomach
7	chr21:44990600-44994400	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:44992400-44994600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:44992400-45004200	Weak transcription	Right Atrium	heart
10	chr21:44992600-44994600	Weak transcription	Adipose Nuclei	Adipose
11	chr21:44992600-44994600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr21:44993000-44994400	Weak transcription	Fetal Stomach	stomach
13	chr21:44993000-44994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr21:44993000-44994800	Weak transcription	Fetal Brain Female	brain
15	chr21:44993000-44995000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr21:44993200-44994600	Weak transcription	HSMM	muscle
17	chr21:44993400-44994600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:44993600-44994600	Weak transcription	Fetal Thymus	thymus
19	chr21:44993600-44994600	Weak transcription	Lung	lung
20	chr21:44993600-44994600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr21:44993600-44996000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr21:44993800-44994200	Weak transcription	Fetal Muscle Leg	muscle
23	chr21:44993800-44994800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr21:44993800-44995000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr21:44993800-44995000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:44993800-44996000	Enhancers	Fetal Muscle Trunk	muscle
27	chr21:44994000-44994400	Weak transcription	Fetal Brain Male	brain

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