Variant report

Variant	rs7716982
Chromosome Location	chr5:40646560-40646561
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11739531	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2221490	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2888173	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4133101	0.82[ASW][hapmap];0.88[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs4434423	0.84[CEU][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes]
rs4546432	0.87[CEU][hapmap];0.90[LWK][hapmap];0.82[YRI][hapmap]
rs4607392	0.88[CEU][hapmap]
rs4957331	0.84[AMR][1000 genomes]
rs4957332	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6451533	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882769	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7730020	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9687297	0.80[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7716982	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs7716982	SLC1A3	cis	cerebellum	SCAN
rs7716982	TTC33	Cis_1M	lymphoblastoid	RTeQTL
rs7716982	MGC42105	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40641800-40648400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:40644000-40654600	Weak transcription	Small Intestine	intestine
3	chr5:40645200-40648200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:40646000-40646800	Enhancers	Hela-S3	cervix
5	chr5:40646000-40646800	Enhancers	HUVEC	blood vessel
6	chr5:40646200-40646600	Enhancers	Duodenum Mucosa	Duodenum
7	chr5:40646200-40646800	Enhancers	Fetal Intestine Small	intestine
8	chr5:40646200-40646800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:40646200-40646800	Enhancers	Stomach Mucosa	stomach
10	chr5:40646400-40646600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr5:40646400-40652400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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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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