Variant report

Variant	rs2838465
Chromosome Location	chr21:45427830-45427831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45406297..45409169-chr21:45425918..45428099,2	K562	blood:
2	chr21:45371704..45374337-chr21:45426756..45428493,2	K562	blood:
3	chr21:45412059..45414701-chr21:45426081..45427962,2	MCF-7	breast:
4	chr21:45424075..45428329-chr21:45429295..45434139,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1005045	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11910604	1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2020943	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2071144	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2227265	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2838459	1.00[EUR][1000 genomes]
rs2838463	1.00[EUR][1000 genomes]
rs2838470	0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs2838479	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2838484	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2838487	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2838495	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2838497	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2838510	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs28834388	0.93[ASN][1000 genomes]
rs57812760	0.98[ASN][1000 genomes]
rs57913591	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60503863	0.98[ASN][1000 genomes]
rs7275501	0.98[ASN][1000 genomes]
rs7282644	0.96[ASN][1000 genomes]
rs73906694	1.00[EUR][1000 genomes]
rs73906696	1.00[EUR][1000 genomes]
rs73909115	0.96[ASN][1000 genomes]
rs8128926	1.00[JPT][hapmap]
rs878132	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9284512	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs9653782	1.00[EUR][1000 genomes]
rs9680153	1.00[EUR][1000 genomes]
rs9974767	0.86[ASN][1000 genomes]
rs9976939	1.00[EUR][1000 genomes]
rs9977122	0.91[ASN][1000 genomes]
rs9977460	0.98[ASN][1000 genomes]
rs9978109	1.00[JPT][hapmap]
rs9978334	1.00[EUR][1000 genomes]
rs9978772	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9979931	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9980063	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs9982695	0.80[CHB][hapmap];1.00[JPT][hapmap]
rs9982907	0.96[ASN][1000 genomes]
rs9983551	0.93[ASN][1000 genomes]
rs9983596	0.91[ASN][1000 genomes]
rs9984876	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45421400-45430400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:45421400-45430600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr21:45421600-45431000	Weak transcription	Brain Angular Gyrus	brain
4	chr21:45421600-45431000	Weak transcription	Brain Substantia Nigra	brain
5	chr21:45421800-45430200	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:45423400-45431000	Weak transcription	Thymus	Thymus
7	chr21:45425400-45428000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr21:45425600-45428200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:45425600-45428400	Enhancers	NH-A	brain
10	chr21:45426400-45430400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:45426400-45431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:45426400-45431000	Weak transcription	Liver	Liver
13	chr21:45426400-45431000	Weak transcription	Colon Smooth Muscle	Colon
14	chr21:45426400-45431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr21:45426400-45431600	Weak transcription	Lung	lung
16	chr21:45426600-45429800	Weak transcription	HepG2	liver
17	chr21:45426800-45430600	Weak transcription	Adipose Nuclei	Adipose
18	chr21:45426800-45430600	Weak transcription	Placenta	Placenta
19	chr21:45426800-45431000	Weak transcription	A549	lung
20	chr21:45427000-45428200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr21:45427000-45428400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr21:45427000-45428600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:45427000-45429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:45427000-45430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:45427000-45430000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:45427000-45430400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:45427000-45430800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45427000-45430800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:45427000-45430800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr21:45427000-45430800	Weak transcription	HUVEC	blood vessel
31	chr21:45427000-45431000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:45427000-45431000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr21:45427000-45431000	Weak transcription	Hela-S3	cervix
34	chr21:45427000-45431000	Weak transcription	NHEK	skin
35	chr21:45427000-45431000	Weak transcription	NHLF	lung
36	chr21:45427000-45431200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:45427000-45431200	Weak transcription	HMEC	breast
38	chr21:45427400-45430600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:45427400-45431000	Weak transcription	Fetal Intestine Small	intestine
40	chr21:45427600-45431200	Weak transcription	NHDF-Ad	bronchial
41	chr21:45427800-45430000	Weak transcription	HSMM	muscle
42	chr21:45427800-45430400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr21:45427800-45430400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:45427800-45430600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr21:45427800-45430800	Weak transcription	Osteobl	bone
46	chr21:45427800-45431200	Weak transcription	HSMMtube	muscle

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