Variant report

Variant	rs59705038
Chromosome Location	chr2:231150978-231150979
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59581368	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59786244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104288	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104290	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104294	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104296	0.95[AFR][1000 genomes]
rs73106374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106385	0.95[AFR][1000 genomes];1.00[AMR][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	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231128200-231166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:231136400-231158400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:231136600-231151400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:231136600-231157600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:231136800-231151800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:231137000-231151000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:231137600-231151200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:231146000-231160600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:231147200-231165400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr2:231147800-231182400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:231148200-231152000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:231148200-231160600	Strong transcription	Primary B cells from cord blood	blood
14	chr2:231148800-231161000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:231149800-231160800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:231149800-231161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:231150000-231151000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:231150000-231156800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:231150200-231151600	Enhancers	Left Ventricle	heart
20	chr2:231150200-231151800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:231150800-231152400	Genic enhancers	GM12878-XiMat	blood

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