Variant report

Variant	rs4730324
Chromosome Location	chr7:108228312-108228313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10156002	0.91[ASN][1000 genomes]
rs10253210	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10270723	0.95[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10282368	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1043615	0.81[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.89[JPT][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17426315	0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs2041003	0.91[ASN][1000 genomes]
rs2058127	0.94[AFR][1000 genomes]
rs2072212	0.87[ASN][1000 genomes]
rs34668718	0.91[ASN][1000 genomes]
rs40922	0.82[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.81[ASN][1000 genomes]
rs40927	0.82[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.81[ASN][1000 genomes]
rs40929	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs40930	0.81[ASN][1000 genomes]
rs40933	0.81[ASN][1000 genomes]
rs40937	0.87[ASN][1000 genomes]
rs40943	0.90[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.87[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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv817371	chr7:108199882-108649799	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4730324	C7orf66	cis	cerebellum	SCAN
rs4730324	THAP5	cis	brain	BrainEAC
rs4730324	THAP5	cis	lymphoblastoid	seeQTL
rs4730324	DNAJB9	cis	parietal	SCAN
rs4730324	THAP5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108216400-108229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:108221000-108229000	Weak transcription	Right Ventricle	heart
3	chr7:108221200-108229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:108223000-108233200	Weak transcription	Small Intestine	intestine
5	chr7:108225000-108230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:108225200-108229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:108226800-108230400	Weak transcription	Right Atrium	heart
8	chr7:108228000-108230000	Weak transcription	Fetal Heart	heart

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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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