Variant report

Variant	rs7219420
Chromosome Location	chr17:45800299-45800300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1808192	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7219420	TBKBP1	cis	Thyroid	GTEx
rs7219420	TBKBP1	cis	Whole Blood	GTEx
rs7219420	TBKBP1	cis	Nerve Tibial	GTEx
rs7219420	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7219420	TBKBP1	cis	Artery Aorta	GTEx
rs7219420	TBKBP1	cis	lung	GTEx
rs7219420	TBKBP1	cis	Artery Tibial	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45790000-45810400	Weak transcription	Right Atrium	heart
2	chr17:45799200-45810800	Weak transcription	Gastric	stomach
3	chr17:45799400-45804200	Weak transcription	Spleen	Spleen
4	chr17:45799800-45800400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:45799800-45802200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr17:45799800-45802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:45799800-45803200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:45799800-45804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:45799800-45804600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:45800000-45800400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr17:45800000-45803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:45800000-45804400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:45800000-45804600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:45800200-45801200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:45800200-45803000	Weak transcription	Primary T killer memory cells from peripheral blood	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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