Variant report

Variant	rs2399393
Chromosome Location	chr3:111289988-111289989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12494356	0.92[ASN][1000 genomes]
rs1398750	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1513323	0.83[ASN][1000 genomes]
rs721336	0.84[ASN][1000 genomes]
rs968910	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9831496	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9859779	0.82[AMR][1000 genomes];0.94[EUR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111286400-111293200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr3:111287200-111290600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr3:111287600-111290200	Weak transcription	Fetal Thymus	thymus
4	chr3:111287800-111290400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:111287800-111293000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:111288200-111290000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:111288400-111290200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:111288400-111296000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:111288600-111296600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:111288800-111291200	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr3:111289200-111291200	Strong transcription	Primary T cells from cord blood	blood
12	chr3:111289200-111291200	Strong transcription	Thymus	Thymus
13	chr3:111289400-111290000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:111289400-111291200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:111289400-111292200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:111289600-111290000	Genic enhancers	Dnd41	blood
17	chr3:111289600-111291000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr3:111289600-111292000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:111289800-111290800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood

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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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