Variant report

Variant	rs7520889
Chromosome Location	chr1:95597640-95597641
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10782998	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11165320	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12035503	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097274	1.00[EUR][1000 genomes]
rs12406444	1.00[AMR][1000 genomes]
rs2391630	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs259358	0.94[LWK][hapmap]
rs6665441	1.00[EUR][1000 genomes]
rs6695720	0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7365394	1.00[ASW][hapmap];0.81[LWK][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs7517250	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7526279	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532269	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs915502	0.87[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs915503	0.87[AFR][1000 genomes];1.00[AMR][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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7520889	RWDD3	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
2	chr1:95584400-95603400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:95584600-95602200	Weak transcription	Right Ventricle	heart
4	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:95588200-95599600	Weak transcription	Gastric	stomach
6	chr1:95588200-95608000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:95588400-95597800	Weak transcription	Fetal Heart	heart
8	chr1:95590000-95611000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:95591800-95602800	Enhancers	Liver	Liver
10	chr1:95592800-95634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:95594600-95598000	Weak transcription	HepG2	liver
13	chr1:95594600-95610600	Weak transcription	A549	lung
14	chr1:95594800-95602400	Weak transcription	K562	blood
15	chr1:95596200-95598400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:95597000-95599600	Weak transcription	Pancreas	Pancrea
17	chr1:95597600-95602400	Weak transcription	Left Ventricle	heart

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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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