Variant report

Variant	rs12538423
Chromosome Location	chr7:103330211-103330212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10281266	0.84[GIH][hapmap]
rs10435337	0.91[GIH][hapmap]
rs12538344	0.80[EUR][1000 genomes]
rs12540537	0.84[GIH][hapmap]
rs12705139	0.85[JPT][hapmap]
rs1541329	0.86[JPT][hapmap]
rs17286505	0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2073558	0.82[GIH][hapmap];0.85[YRI][hapmap]
rs2073559	0.86[JPT][hapmap]
rs2106174	0.85[YRI][hapmap]
rs2283027	0.84[GIH][hapmap]
rs2283028	0.84[GIH][hapmap]
rs2299360	0.85[YRI][hapmap]
rs2299372	0.84[GIH][hapmap]
rs2299374	0.84[GIH][hapmap]
rs2299375	0.84[GIH][hapmap]
rs2384931	0.80[EUR][1000 genomes]
rs7798414	0.84[GIH][hapmap]
rs975743	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12538423	C7orf43	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103321800-103330800	Weak transcription	K562	blood
2	chr7:103326000-103331600	Enhancers	Brain Germinal Matrix	brain
3	chr7:103329600-103331400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:103329800-103330400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:103329800-103331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:103329800-103331200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:103330200-103331000	Enhancers	NHLF	lung
8	chr7:103330200-103331600	Weak transcription	HepG2	liver

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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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