Variant report

Variant	rs12323345
Chromosome Location	chr14:55375090-55375091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10131563	1.00[AMR][1000 genomes]
rs10138594	1.00[AMR][1000 genomes]
rs10140092	1.00[AMR][1000 genomes]
rs10141456	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142436	1.00[AMR][1000 genomes]
rs10143699	1.00[AMR][1000 genomes]
rs10148995	1.00[AMR][1000 genomes]
rs10149945	0.90[AFR][1000 genomes]
rs11847085	1.00[AMR][1000 genomes]
rs28411355	1.00[AMR][1000 genomes]
rs28413055	1.00[AMR][1000 genomes]
rs28491418	0.95[AFR][1000 genomes]
rs9972204	0.90[AFR][1000 genomes];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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3358123	chr14:55359251-55378030	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55370200-55376800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:55370600-55388600	Weak transcription	HepG2	liver
3	chr14:55374400-55375600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:55374600-55375200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:55374600-55375200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:55374600-55375200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr14:55374600-55375400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr14:55374600-55375400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:55374600-55375600	Enhancers	Dnd41	blood
10	chr14:55374800-55375200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr14:55374800-55375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:55374800-55375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:55374800-55375400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr14:55374800-55376000	Enhancers	Fetal Intestine Large	intestine
15	chr14:55374800-55376600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr14:55375000-55375400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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Input of quick search could be:

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

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