Variant report

Variant	rs17085371
Chromosome Location	chr5:95311171-95311172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17085316	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17085317	1.00[YRI][hapmap]
rs17085321	1.00[ASW][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs17085336	1.00[YRI][hapmap]
rs17085367	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs17085401	0.86[ASW][hapmap]
rs6866039	0.85[AFR][1000 genomes]
rs6878668	0.85[AFR][1000 genomes]
rs73771831	0.87[AFR][1000 genomes]

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	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17085371	EMILIN1	trans	lymphoblastoid	seeQTL
rs17085371	ELL2	cis	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95298800-95322600	Weak transcription	Pancreas	Pancrea
2	chr5:95307400-95318800	Weak transcription	HepG2	liver
3	chr5:95308800-95311800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:95309000-95312000	Enhancers	K562	blood
5	chr5:95309400-95311800	Enhancers	Dnd41	blood
6	chr5:95309600-95311200	Enhancers	Fetal Lung	lung
7	chr5:95309600-95314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:95310400-95312800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:95310600-95312200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:95310800-95312400	Weak transcription	HSMM	muscle

Quick Search:

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

what's new

Quick links