Variant report

Variant	rs2612349
Chromosome Location	chr18:39063408-39063409
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs12968299	1.00[ASN][1000 genomes]
rs1942072	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587614	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587617	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587631	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587640	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587641	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587643	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587644	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587645	1.00[CEU][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587646	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2587647	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612320	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612321	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612322	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612337	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612341	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612345	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612346	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612347	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612348	1.00[CEU][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2612350	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612351	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703169	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848747	0.88[CEU][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848748	1.00[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848757	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2848769	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177537	1.00[ASN][1000 genomes]
rs34817685	1.00[ASN][1000 genomes]
rs4404160	1.00[ASN][1000 genomes]
rs66959060	1.00[ASN][1000 genomes]
rs7238489	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238895	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244165	1.00[ASN][1000 genomes]
rs72903956	1.00[ASN][1000 genomes]
rs72903960	1.00[ASN][1000 genomes]
rs72903968	1.00[ASN][1000 genomes]
rs72903976	1.00[ASN][1000 genomes]
rs72903977	1.00[ASN][1000 genomes]
rs72903981	1.00[ASN][1000 genomes]
rs72903999	1.00[ASN][1000 genomes]
rs72905909	1.00[ASN][1000 genomes]
rs72905919	1.00[ASN][1000 genomes]
rs72905927	1.00[ASN][1000 genomes]
rs72905935	1.00[ASN][1000 genomes]
rs72905937	1.00[ASN][1000 genomes]
rs72905973	1.00[ASN][1000 genomes]
rs72905981	1.00[ASN][1000 genomes]
rs72905986	1.00[ASN][1000 genomes]
rs72905989	1.00[ASN][1000 genomes]
rs72907804	1.00[ASN][1000 genomes]
rs72907808	1.00[ASN][1000 genomes]
rs72907817	1.00[ASN][1000 genomes]
rs72907821	1.00[ASN][1000 genomes]
rs72907842	1.00[ASN][1000 genomes]
rs72907845	1.00[ASN][1000 genomes]
rs72907847	1.00[ASN][1000 genomes]
rs72907850	1.00[ASN][1000 genomes]
rs72907851	1.00[ASN][1000 genomes]
rs72907853	1.00[ASN][1000 genomes]
rs72907854	1.00[ASN][1000 genomes]
rs72907855	1.00[ASN][1000 genomes]
rs72909919	1.00[ASN][1000 genomes]
rs8098315	1.00[ASN][1000 genomes]
rs8098394	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39051200-39072000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:39062600-39064000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr18:39062800-39063800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr18:39063000-39063800	Enhancers	H9 Cell Line	embryonic stem cell
5	chr18:39063000-39063800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:39063000-39063800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:39063000-39064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr18:39063000-39064000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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