Variant report

Variant	rs4401284
Chromosome Location	chr21:18375475-18375476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61331909	0.87[ASN][1000 genomes]
rs8126967	1.00[EUR][1000 genomes];0.95[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	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
3	esv2751924	chr21:18169497-18541529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834053	chr21:18369514-18500929	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv587081	chr21:18370713-18402124	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv913428	chr21:18373340-18425733	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18370200-18375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:18373000-18377000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr21:18373200-18376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:18374000-18376600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:18374000-18376800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr21:18374200-18376000	Enhancers	HSMMtube	muscle
7	chr21:18374200-18376200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:18374200-18376200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:18374200-18376200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:18374200-18376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:18374600-18375800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr21:18374800-18376000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:18374800-18376000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr21:18374800-18376000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:18374800-18376200	Enhancers	HSMM	muscle
16	chr21:18375000-18376000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr21:18375000-18376000	Enhancers	NHDF-Ad	bronchial
18	chr21:18375000-18376200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:18375000-18376400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:18375000-18376400	Enhancers	Fetal Lung	lung
21	chr21:18375000-18376800	Flanking Active TSS	Dnd41	blood
22	chr21:18375200-18375600	Enhancers	Fetal Thymus	thymus
23	chr21:18375200-18375600	Enhancers	A549	lung
24	chr21:18375200-18375800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:18375200-18375800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:18375200-18376000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:18375200-18376000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:18375200-18376200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr21:18375200-18376200	Enhancers	NHEK	skin
30	chr21:18375200-18376400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:18375200-18376400	Enhancers	Brain Anterior Caudate	brain
32	chr21:18375200-18376400	Enhancers	Colon Smooth Muscle	Colon
33	chr21:18375200-18376800	Enhancers	Hela-S3	cervix
34	chr21:18375200-18376800	Flanking Active TSS	NH-A	brain
35	chr21:18375400-18375600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:18375400-18375600	Flanking Active TSS	Osteobl	bone
37	chr21:18375400-18375800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:18375400-18375800	Enhancers	Ovary	ovary
39	chr21:18375400-18376000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr21:18375400-18376200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr21:18375400-18376200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr21:18375400-18376400	Enhancers	Cortex derived primary cultured neurospheres	brain

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