Variant report

Variant	rs10484716
Chromosome Location	chr6:128175722-128175723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12525945	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs13217145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17054989	0.86[CHB][hapmap]
rs17055050	0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17055058	0.80[CHD][hapmap]
rs57507694	0.83[ASN][1000 genomes]
rs6901443	0.90[CHB][hapmap];0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs6918558	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs7743701	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7760902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7767438	0.80[CHD][hapmap]
rs7773220	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9372882	0.93[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9375534	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs9385439	0.91[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap]
rs9385440	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9401999	0.86[ASN][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	nsv830799	chr6:128033100-128194511	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv1849854	chr6:128143774-128287313	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10484716	L3MBTL3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128134800-128180200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:128139600-128178800	Weak transcription	Dnd41	blood
3	chr6:128160600-128176400	Strong transcription	Fetal Thymus	thymus
4	chr6:128165200-128177000	Weak transcription	Thymus	Thymus
5	chr6:128173400-128176200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:128174200-128175800	Genic enhancers	Primary T cells from cord blood	blood
7	chr6:128174200-128175800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:128174200-128176000	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:128174400-128176200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr6:128174800-128175800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:128174800-128175800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:128175000-128176000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr6:128175200-128175800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:128175400-128176600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:128175600-128175800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:128175600-128176600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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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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