Variant report

Variant	rs2116666
Chromosome Location	chr7:38721690-38721691
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10244270	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10951569	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11981077	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11984238	0.82[EUR][1000 genomes]
rs12701649	0.81[EUR][1000 genomes]
rs2392593	0.90[EUR][1000 genomes]
rs2392594	0.82[EUR][1000 genomes]
rs6462857	0.82[EUR][1000 genomes]
rs6945492	0.84[EUR][1000 genomes]
rs6945629	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6977813	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6977993	0.82[EUR][1000 genomes]
rs6978500	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6978759	0.95[AFR][1000 genomes];0.92[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	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv887965	chr7:38706384-38793243	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2116666	DPY19L2P1	cis	cerebellum	SCAN
rs2116666	SEPT7	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38696000-38726000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:38714000-38721800	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:38719600-38721800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:38720000-38722400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:38721000-38722800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:38721200-38723000	Enhancers	Fetal Heart	heart
7	chr7:38721400-38721800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr7:38721400-38721800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:38721400-38722000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:38721400-38722000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:38721600-38722200	Enhancers	Right Atrium	heart
12	chr7:38721600-38722400	Enhancers	Fetal Brain Female	brain
13	chr7:38721600-38722800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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