Variant report

Variant	rs17465348
Chromosome Location	chr21:40343534-40343535
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16996985	1.00[AMR][1000 genomes]
rs16997048	1.00[EUR][1000 genomes]
rs16997055	1.00[EUR][1000 genomes]
rs16997065	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16997069	1.00[YRI][hapmap];0.93[AFR][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[EUR][1000 genomes]
rs17465355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28574736	1.00[AMR][1000 genomes]
rs28574902	1.00[AMR][1000 genomes]
rs58618030	1.00[AMR][1000 genomes]
rs73435078	1.00[AMR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
2	chr21:40336400-40343600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:40338400-40351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:40339000-40351200	Weak transcription	Fetal Intestine Small	intestine
5	chr21:40341600-40347000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:40341600-40347000	Weak transcription	Dnd41	blood
7	chr21:40341600-40350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40341800-40347200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:40342200-40344000	Enhancers	Spleen	Spleen
10	chr21:40342200-40344000	Enhancers	HUVEC	blood vessel
11	chr21:40342400-40343800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:40342400-40343800	Enhancers	Fetal Thymus	thymus
13	chr21:40342400-40344000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr21:40343200-40345000	Weak transcription	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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