Variant report

Variant	rs493691
Chromosome Location	chr6:49290295-49290296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs16878901	0.82[AFR][1000 genomes]
rs16878906	0.82[AFR][1000 genomes]
rs1738322	1.00[AMR][1000 genomes]
rs1748805	1.00[AMR][1000 genomes]
rs471258	1.00[AMR][1000 genomes]
rs472168	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs473800	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475833	1.00[AMR][1000 genomes]
rs476131	0.80[YRI][hapmap]
rs476657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477051	1.00[YRI][hapmap]
rs477529	1.00[AMR][1000 genomes]
rs478469	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs478991	0.83[YRI][hapmap]
rs480061	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs482046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs483257	0.82[AFR][1000 genomes]
rs484563	0.96[AFR][1000 genomes]
rs484612	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485743	0.82[AFR][1000 genomes]
rs486435	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs487363	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs488497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489459	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs491715	1.00[AMR][1000 genomes]
rs491967	0.82[AFR][1000 genomes]
rs494529	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs495233	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs496080	0.94[AFR][1000 genomes]
rs497233	1.00[AMR][1000 genomes]
rs497390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs498048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs498218	1.00[AMR][1000 genomes]
rs498264	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs498367	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs498400	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs502767	1.00[AMR][1000 genomes]
rs502868	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504940	1.00[AMR][1000 genomes]
rs505273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs506176	1.00[AMR][1000 genomes]
rs506228	1.00[AMR][1000 genomes]
rs507989	1.00[AMR][1000 genomes]
rs510455	0.83[YRI][hapmap]
rs513031	0.83[YRI][hapmap]
rs514138	0.83[YRI][hapmap]
rs515439	1.00[AMR][1000 genomes]
rs515566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs516988	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs517774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519217	1.00[AMR][1000 genomes]
rs519426	1.00[AMR][1000 genomes]
rs519734	1.00[AMR][1000 genomes]
rs520470	0.83[YRI][hapmap]
rs520508	1.00[AMR][1000 genomes]
rs522061	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs523440	1.00[AMR][1000 genomes]
rs523897	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524781	1.00[AMR][1000 genomes]
rs524822	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs525102	1.00[AMR][1000 genomes]
rs525892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs526635	0.86[AFR][1000 genomes]
rs529393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs530710	1.00[AMR][1000 genomes]
rs531943	1.00[AMR][1000 genomes]
rs539366	1.00[AMR][1000 genomes]
rs539427	0.83[YRI][hapmap]
rs539659	1.00[YRI][hapmap]
rs539754	0.83[YRI][hapmap]
rs540175	1.00[AMR][1000 genomes]
rs540374	1.00[AMR][1000 genomes]
rs541985	1.00[AMR][1000 genomes]
rs544263	0.83[YRI][hapmap]
rs546248	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547267	1.00[AMR][1000 genomes]
rs547609	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550330	1.00[AMR][1000 genomes]
rs550485	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550645	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs552336	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs552350	1.00[AMR][1000 genomes]
rs552383	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs553567	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs556318	1.00[AMR][1000 genomes]
rs558669	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559388	1.00[AMR][1000 genomes]
rs559706	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560390	1.00[AMR][1000 genomes]
rs560700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561215	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561296	1.00[AMR][1000 genomes]
rs562011	1.00[AMR][1000 genomes]
rs562138	1.00[AMR][1000 genomes]
rs563111	0.83[YRI][hapmap]
rs563878	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs564151	1.00[AMR][1000 genomes]
rs565702	1.00[AMR][1000 genomes]
rs565793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567539	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568143	0.83[YRI][hapmap]
rs571802	0.82[AFR][1000 genomes]
rs572782	1.00[AMR][1000 genomes]
rs574868	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574970	1.00[AMR][1000 genomes]
rs575461	0.83[YRI][hapmap]
rs575753	1.00[AMR][1000 genomes]
rs577075	1.00[AMR][1000 genomes]
rs577922	1.00[AMR][1000 genomes]
rs578848	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs579011	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6933384	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755862	chr6:49081541-49298041	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3434790	chr6:49281547-49295228	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a
3	esv3472555	chr6:49281568-49295231	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a
4	esv3472556	chr6:49281633-49295152	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	inside rSNPs	n/a
5	esv3472557	chr6:49281695-49295113	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	inside rSNPs	n/a
6	esv13429	chr6:49281885-49295108	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	n/a	n/a	inside rSNPs	n/a
7	esv2762590	chr6:49286305-49295370	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	n/a
8	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49285000-49293600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:49288400-49293800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:49290200-49293600	Weak transcription	Fetal Lung	lung

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