Variant report

Variant	rs8133767
Chromosome Location	chr21:46485239-46485240
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	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:

Variant related genes	Relation type
ENSG00000160256	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2032253	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2838772	1.00[CHB][hapmap]
rs2838775	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2838779	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838780	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838784	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2838785	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs2877003	1.00[ASN][1000 genomes]
rs375621	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs387536	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs406923	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs412431	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs423892	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs425176	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs437833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs444789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs451550	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73230653	0.90[ASN][1000 genomes]
rs73230658	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	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:22 , 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	chr21:46484000-46485400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr21:46484000-46485400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:46484000-46485400	Enhancers	Fetal Muscle Leg	muscle
6	chr21:46484000-46485400	Enhancers	K562	blood
7	chr21:46484000-46485600	Enhancers	Aorta	Aorta
8	chr21:46484200-46485400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:46484400-46485400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:46484600-46485600	Enhancers	Right Ventricle	heart
11	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:46484800-46487200	Weak transcription	Fetal Heart	heart
13	chr21:46484800-46493200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr21:46485000-46489200	Weak transcription	HSMM	muscle
15	chr21:46485000-46489600	Weak transcription	HSMMtube	muscle
16	chr21:46485000-46489800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr21:46485000-46490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:46485200-46488600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:46485200-46488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr21:46485200-46489000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:46485200-46489800	Weak transcription	NH-A	brain
22	chr21:46485200-46490000	Weak transcription	Placenta	Placenta

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