Variant report

Variant	rs7168187
Chromosome Location	chr15:35097932-35097933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12913142	0.86[AFR][1000 genomes]
rs17237149	0.85[ASN][1000 genomes]
rs1836972	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2067724	1.00[ASN][1000 genomes]
rs2099558	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28527470	0.83[ASN][1000 genomes]
rs28600252	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7175277	0.98[ASN][1000 genomes]
rs8041201	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs893130	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv569133	chr15:34881304-35142566	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7168187	TJP1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35093000-35100200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:35093200-35100200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:35094400-35098600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:35095800-35098600	Weak transcription	K562	blood
5	chr15:35096000-35098800	Weak transcription	Placenta	Placenta
6	chr15:35096000-35102000	Weak transcription	HMEC	breast
7	chr15:35096000-35102600	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:35096200-35103000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:35096400-35100200	Weak transcription	Hela-S3	cervix
10	chr15:35096400-35102200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:35096600-35098000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr15:35097600-35100200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:35097600-35100200	Weak transcription	HSMMtube	muscle
14	chr15:35097600-35102200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:35097800-35100200	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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