Variant report

Variant	rs2838762
Chromosome Location	chr21:46487831-46487832
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
2	chr21:46235739..46237991-chr21:46486387..46489137,3	K562	blood:
3	chr21:46406555..46409539-chr21:46486674..46489359,3	K562	blood:
4	chr21:46486267..46489249-chr21:46706822..46708729,2	K562	blood:
5	chr21:46441960..46443494-chr21:46487575..46490346,2	K562	blood:
6	chr21:46418927..46420511-chr21:46486676..46488518,2	MCF-7	breast:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2838763	0.95[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs373687	0.82[CHB][hapmap]
rs62216572	0.89[ASN][1000 genomes]
rs6518211	0.82[ASN][1000 genomes]
rs7282639	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs8131990	0.86[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:23 , 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	chr21:46485200-46488600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:46485200-46488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:46485200-46489000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:46485200-46489800	Weak transcription	NH-A	brain
13	chr21:46485200-46490000	Weak transcription	Placenta	Placenta
14	chr21:46485400-46489200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:46485400-46489200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:46485400-46492800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
18	chr21:46487200-46488000	Enhancers	Fetal Muscle Leg	muscle
19	chr21:46487200-46488000	Flanking Active TSS	K562	blood
20	chr21:46487400-46489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:46487600-46493200	Enhancers	Fetal Muscle Trunk	muscle
22	chr21:46487800-46493200	Weak transcription	Fetal Heart	heart
23	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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