Variant report

Variant	rs72969832
Chromosome Location	chr2:101246257-101246258
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:8)

rs_ID	r²[population]
rs10496349	1.00[AMR][1000 genomes]
rs17024550	1.00[AMR][1000 genomes]
rs17024553	1.00[AMR][1000 genomes]
rs17024557	1.00[AMR][1000 genomes]
rs59699118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966945	1.00[AMR][1000 genomes]
rs72966949	1.00[AMR][1000 genomes]
rs72969815	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv834314	chr2:101210940-101410477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101243200-101249400	Enhancers	Fetal Thymus	thymus
2	chr2:101243400-101247800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:101244600-101246600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:101244600-101246600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:101244800-101246400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:101244800-101246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:101245000-101246400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:101245000-101247000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:101245800-101247200	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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