Variant report

Variant	rs7635430
Chromosome Location	chr3:180152036-180152037
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16831570	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831578	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831586	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57837690	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61658120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61711642	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041695	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041701	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043704	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73043705	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624451	0.84[LWK][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	nsv1012271	chr3:179806875-180234871	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv997388	chr3:179899279-180172349	Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv536817	chr3:179899279-180172349	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs7635430	DGKD	trans	brain	seeQTL
rs7635430	ARHGAP4	trans	brain	seeQTL
rs7635430	BARHL1	trans	brain	seeQTL
rs7635430	CD247	trans	brain	seeQTL
rs7635430	PCP2	trans	brain	seeQTL
rs7635430	AMICA1	trans	brain	seeQTL
rs7635430	MTNR1A	trans	brain	seeQTL
rs7635430	TNXB	trans	brain	seeQTL
rs7635430	SEPT12	trans	brain	seeQTL
rs7635430	CHAD	trans	brain	seeQTL
rs7635430	ESPNL	trans	brain	seeQTL
rs7635430	MORN1	trans	brain	seeQTL
rs7635430	TMEM52	trans	brain	seeQTL
rs7635430	GRM4	trans	brain	seeQTL
rs7635430	ARAP3	trans	brain	seeQTL
rs7635430	SCGN	trans	brain	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:180150200-180152400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:180150200-180152600	Enhancers	HMEC	breast
3	chr3:180150400-180152400	Enhancers	NHEK	skin
4	chr3:180150600-180152400	Enhancers	HUVEC	blood vessel
5	chr3:180151400-180152200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:180151600-180152200	Enhancers	Muscle Satellite Cultured Cells	--

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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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