Variant report

Variant	rs7148646
Chromosome Location	chr14:37407036-37407037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10130699	0.86[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];0.84[GIH][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10136303	0.81[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2774042	1.00[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap]
rs712388	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[TSI][hapmap]
rs712391	0.95[CEU][hapmap]
rs712392	1.00[CEU][hapmap]
rs712395	0.94[CEU][hapmap]
rs712398	0.95[CEU][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap]
rs712399	0.81[CEU][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.94[TSI][hapmap]
rs712401	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs7159710	0.85[EUR][1000 genomes]
rs7160143	0.86[ASW][hapmap];0.90[CEU][hapmap];0.90[CHB][hapmap];0.87[GIH][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs848691	0.95[CEU][hapmap]
rs848692	1.00[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap]
rs848694	0.85[CEU][hapmap]
rs848700	0.95[CEU][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap]
rs861926	0.85[CEU][hapmap];0.91[CHB][hapmap]

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	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv534288	chr14:37254539-37697745	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1050254	chr14:37400173-37445157	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7148646	SEC23A	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37405600-37411400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:37405800-37412000	Weak transcription	HMEC	breast
3	chr14:37406000-37409200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:37406000-37413200	Weak transcription	Hela-S3	cervix
5	chr14:37406600-37413800	Weak transcription	K562	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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