Variant report

Variant	rs2830535
Chromosome Location	chr21:28168603-28168604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28168344..28170400-chr21:28409264..28410987,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11702792	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2830518	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2830520	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2830524	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2830530	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28368558	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4816293	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4816294	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62215752	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv3390983	chr21:28168060-28168660	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28163600-28172400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28167600-28168800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr21:28167600-28169200	Enhancers	Brain Germinal Matrix	brain
4	chr21:28167600-28169400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr21:28167600-28169600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:28167600-28170000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr21:28167800-28168800	Enhancers	HSMMtube	muscle
8	chr21:28167800-28169000	Enhancers	Fetal Stomach	stomach
9	chr21:28167800-28169400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr21:28168000-28168800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:28168000-28168800	Enhancers	HSMM	muscle
12	chr21:28168000-28169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr21:28168000-28169200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr21:28168000-28169400	Enhancers	Fetal Heart	heart
15	chr21:28168200-28168800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:28168200-28168800	Active TSS	Brain Angular Gyrus	brain
17	chr21:28168200-28168800	Enhancers	Rectal Smooth Muscle	rectum
18	chr21:28168200-28169000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:28168200-28169000	Enhancers	Fetal Lung	lung
20	chr21:28168200-28169000	Enhancers	NHLF	lung
21	chr21:28168400-28168800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:28168400-28168800	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr21:28168400-28169000	Enhancers	Osteobl	bone
24	chr21:28168400-28169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr21:28168400-28171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:28168400-28172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:28168400-28172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr21:28168400-28174600	Enhancers	Hela-S3	cervix
29	chr21:28168400-28176400	Weak transcription	Left Ventricle	heart
30	chr21:28168600-28169000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:28168600-28169000	Weak transcription	Colon Smooth Muscle	Colon
32	chr21:28168600-28169000	Weak transcription	Ovary	ovary
33	chr21:28168600-28169000	Enhancers	NHDF-Ad	bronchial
34	chr21:28168600-28169400	Enhancers	Brain Substantia Nigra	brain
35	chr21:28168600-28169600	Enhancers	Brain Hippocampus Middle	brain
36	chr21:28168600-28169600	Enhancers	Skeletal Muscle Male	skeletal muscle

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