Variant report

Variant	rs2126918
Chromosome Location	chr5:106242566-106242567
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10464030	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12055079	0.87[EUR][1000 genomes]
rs12055084	0.86[EUR][1000 genomes]
rs12658425	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1392479	0.97[EUR][1000 genomes]
rs1580831	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1580832	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1909743	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1909744	0.83[AMR][1000 genomes]
rs2086113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2086114	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2086116	0.81[ASN][1000 genomes]
rs2447764	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447765	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2447767	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2454889	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2454890	0.81[ASN][1000 genomes]
rs2463027	0.87[ASN][1000 genomes]
rs2463036	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2463037	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2463039	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2964615	0.81[AMR][1000 genomes]
rs35399767	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35989639	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4146508	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs899184	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs904762	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599285	chr5:105355890-106271223	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016354	chr5:105752391-106392762	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1017901	chr5:105847628-106298378	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv2752055	chr5:106034797-106280515	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1020718	chr5:106058868-106293873	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv882678	chr5:106130200-106255758	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv462378	chr5:106162197-106293263	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv599301	chr5:106162197-106293263	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv830439	chr5:106192038-106383828	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv518559	chr5:106223536-106260621	Enhancers Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv818374	chr5:106223536-106260621	Enhancers Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv599304	chr5:106223536-106271223	Enhancers Weak transcription Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv1016373	chr5:106226427-106260621	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a
15	esv2763930	chr5:106226439-106260621	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
16	esv2757130	chr5:106227109-106258750	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a
17	esv2759367	chr5:106227109-106258750	Strong transcription Active TSS Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
18	nsv1025126	chr5:106227109-106260621	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	inside rSNPs	n/a
19	nsv599323	chr5:106230234-106260621	Enhancers Weak transcription Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a
20	esv3343241	chr5:106234102-106248540	Enhancers Active TSS Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106241000-106242600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:106241800-106242800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr5:106242400-106252200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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