Variant report

Variant	rs38828
Chromosome Location	chr7:117716385-117716386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10247768	0.81[CEU][hapmap]
rs10272234	0.82[EUR][1000 genomes]
rs11974039	0.81[CEU][hapmap]
rs11983651	0.85[CEU][hapmap];0.89[TSI][hapmap]
rs17140984	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs17141053	0.82[ASW][hapmap];0.81[CEU][hapmap];0.89[TSI][hapmap]
rs2215628	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2286865	0.81[CEU][hapmap]
rs4730837	0.81[CEU][hapmap]
rs6466643	0.88[EUR][1000 genomes]
rs6972105	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1018914	chr7:117707746-117722120	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1026324	chr7:117707746-117734305	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1019337	chr7:117707746-117739400	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1015980	chr7:117708734-117722120	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1031419	chr7:117708734-117739400	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1016668	chr7:117710267-117722120	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs38828	KCND2	cis	parietal	SCAN
rs38828	ANKRD7	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117710800-117716800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:117712400-117721200	Enhancers	HMEC	breast
3	chr7:117713200-117717800	Weak transcription	Fetal Lung	lung
4	chr7:117714600-117719200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:117714800-117721800	Enhancers	NHEK	skin
6	chr7:117715000-117721800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:117715200-117719000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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