Variant report

Variant	rs7160143
Chromosome Location	chr14:37414545-37414546
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10130699	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136303	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1367030	0.86[EUR][1000 genomes]
rs2022719	0.80[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2774042	0.90[CEU][hapmap];0.84[GIH][hapmap]
rs712388	0.90[CEU][hapmap];0.84[GIH][hapmap]
rs712391	0.85[CEU][hapmap]
rs712392	0.90[CEU][hapmap]
rs712395	0.84[CEU][hapmap]
rs712398	0.85[CEU][hapmap];0.84[GIH][hapmap]
rs712399	0.82[GIH][hapmap]
rs712401	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs7148646	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]
rs8015869	0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs848691	0.85[CEU][hapmap]
rs848692	0.90[CEU][hapmap];0.84[GIH][hapmap]
rs848700	0.84[CEU][hapmap];0.84[GIH][hapmap]
rs861926	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][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
rs7160143	SEC23A	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37411400-37414600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr14:37412000-37414600	Enhancers	HMEC	breast
3	chr14:37413400-37414600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:37413400-37414600	Enhancers	NHLF	lung
5	chr14:37413400-37414800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:37413600-37414600	Enhancers	NHEK	skin
7	chr14:37413800-37437400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:37414000-37414800	Enhancers	Hela-S3	cervix
9	chr14:37414000-37420000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:37414200-37414600	Enhancers	NHDF-Ad	bronchial
11	chr14:37414200-37424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:37414400-37420600	Weak transcription	HSMM	muscle

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

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