Variant report

Variant	rs16997100
Chromosome Location	chr21:40349623-40349624
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40348399..40349920-chr3:73158454..73161630,4	K562	blood:
2	chr17:41380667..41382231-chr21:40348399..40349919,2	MCF-7	breast:
3	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:
4	chr17:41462962..41466281-chr21:40348399..40351400,5	K562	blood:
5	chr17:41380364..41383539-chr21:40348419..40351400,3	K562	blood:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000236383	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16997048	1.00[EUR][1000 genomes]
rs16997055	1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997065	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16997069	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16997079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997093	1.00[EUR][1000 genomes]
rs17465348	1.00[EUR][1000 genomes]
rs17465355	1.00[EUR][1000 genomes]
rs58581377	1.00[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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
2	chr21:40338400-40351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:40339000-40351200	Weak transcription	Fetal Intestine Small	intestine
4	chr21:40341600-40350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:40346800-40351200	Weak transcription	Fetal Kidney	kidney
6	chr21:40347000-40351600	Enhancers	Dnd41	blood
7	chr21:40347400-40351200	Weak transcription	Fetal Thymus	thymus
8	chr21:40347400-40351200	Weak transcription	Thymus	Thymus
9	chr21:40348000-40350600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:40348000-40351000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr21:40349000-40351200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:40349000-40351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:40349000-40351400	Weak transcription	Lung	lung
14	chr21:40349200-40349800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:40349200-40350400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:40349200-40351400	Weak transcription	HepG2	liver
17	chr21:40349200-40352200	Weak transcription	Spleen	Spleen
18	chr21:40349600-40351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:40349600-40351200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:40349600-40351400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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