Variant report

Variant	rs4140914
Chromosome Location	chr7:108224255-108224256
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10081203	0.88[AFR][1000 genomes]
rs10215273	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953575	0.88[AFR][1000 genomes]
rs2190896	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35846666	1.00[EUR][1000 genomes]
rs55645791	1.00[EUR][1000 genomes]
rs56231121	1.00[EUR][1000 genomes]
rs57881876	1.00[EUR][1000 genomes]
rs6943408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73426189	1.00[EUR][1000 genomes]
rs73426193	1.00[EUR][1000 genomes]
rs73426197	1.00[EUR][1000 genomes]
rs73713110	1.00[EUR][1000 genomes]
rs73713177	1.00[EUR][1000 genomes]
rs73713178	1.00[EUR][1000 genomes]
rs73713180	1.00[EUR][1000 genomes]
rs73713181	1.00[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4140914	THAP5	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108214400-108225000	Weak transcription	Fetal Brain Male	brain
2	chr7:108216200-108224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:108216400-108229400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:108216800-108224600	Weak transcription	NHEK	skin
5	chr7:108220600-108224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:108221000-108224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:108221000-108229000	Weak transcription	Right Ventricle	heart
8	chr7:108221200-108226200	Weak transcription	Right Atrium	heart
9	chr7:108221200-108229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:108222200-108225000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:108223000-108224400	Weak transcription	HSMM	muscle
12	chr7:108223000-108224600	Weak transcription	HMEC	breast
13	chr7:108223000-108225000	Weak transcription	Fetal Heart	heart
14	chr7:108223000-108233200	Weak transcription	Small Intestine	intestine

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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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