Variant report

Variant	rs28403458
Chromosome Location	chr21:46488755-46488756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46412431..46414848-chr21:46488593..46490383,2	K562	blood:
2	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
3	chr21:46235739..46237991-chr21:46486387..46489137,3	K562	blood:
4	chr21:46406555..46409539-chr21:46486674..46489359,3	K562	blood:
5	chr21:46486267..46489249-chr21:46706822..46708729,2	K562	blood:
6	chr21:46441960..46443494-chr21:46487575..46490346,2	K562	blood:
7	chr21:46473225..46475340-chr21:46488258..46490065,2	K562	blood:
8	chr21:46488526..46490205-chr21:46542349..46544446,2	MCF-7	breast:
9	chr21:46473237..46476363-chr21:46488566..46491608,3	MCF-7	breast:
10	chr21:46462571..46464607-chr21:46487920..46490840,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184900	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000215447	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs57550246	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
2	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
3	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46484800-46493200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:46485000-46489200	Weak transcription	HSMM	muscle
6	chr21:46485000-46489600	Weak transcription	HSMMtube	muscle
7	chr21:46485000-46489800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr21:46485000-46490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr21:46485200-46488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:46485200-46489000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46485200-46489800	Weak transcription	NH-A	brain
12	chr21:46485200-46490000	Weak transcription	Placenta	Placenta
13	chr21:46485400-46489200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:46485400-46489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:46485400-46492800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
17	chr21:46487400-46489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr21:46487600-46493200	Enhancers	Fetal Muscle Trunk	muscle
19	chr21:46487800-46493200	Weak transcription	Fetal Heart	heart
20	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:46488000-46488800	Enhancers	K562	blood
22	chr21:46488000-46489800	Weak transcription	Fetal Muscle Leg	muscle
23	chr21:46488200-46493400	Weak transcription	Primary T cells from cord blood	blood
24	chr21:46488600-46490200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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