Variant report

Variant	rs17107699
Chromosome Location	chr14:70515017-70515018
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1000521	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1544870	0.88[YRI][hapmap]
rs17107695	0.80[YRI][hapmap]
rs17107746	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73290802	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8010945	0.80[YRI][hapmap]
rs8011824	1.00[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8014867	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17107699	ZFYVE26	cis	cerebellum	SCAN
rs17107699	SMOC1	cis	cerebellum	SCAN
rs17107699	COX16	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70510800-70515400	Weak transcription	Fetal Brain Female	brain
2	chr14:70511200-70518200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:70511600-70519000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:70512600-70516600	Weak transcription	HSMMtube	muscle
5	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
6	chr14:70513200-70515400	Weak transcription	Pancreas	Pancrea
7	chr14:70513200-70519200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:70513200-70520000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:70514000-70515600	Enhancers	Fetal Intestine Large	intestine
10	chr14:70514200-70518000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:70514400-70515200	Enhancers	Stomach Mucosa	stomach
12	chr14:70514600-70515200	Enhancers	Liver	Liver
13	chr14:70514600-70516000	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:70514600-70531200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:70514800-70515200	Enhancers	A549	lung
16	chr14:70514800-70517800	Enhancers	HepG2	liver

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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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