Variant report

Variant	rs16997069
Chromosome Location	chr21:40345095-40345096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16997048	1.00[EUR][1000 genomes]
rs16997055	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16997065	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16997079	1.00[EUR][1000 genomes]
rs16997085	1.00[EUR][1000 genomes]
rs16997093	1.00[EUR][1000 genomes]
rs16997100	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17465348	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17465355	0.93[AFR][1000 genomes];1.00[EUR][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	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
4	esv2626960	chr21:40343696-40345353	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 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	chr21:40341600-40347000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:40341600-40347000	Weak transcription	Dnd41	blood
6	chr21:40341600-40350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:40341800-40347200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:40343800-40345800	Weak transcription	Fetal Thymus	thymus
9	chr21:40343800-40346200	Weak transcription	Thymus	Thymus
10	chr21:40344000-40348400	Weak transcription	Spleen	Spleen
11	chr21:40345000-40345400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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