Variant report

Variant	rs1719249
Chromosome Location	chr15:45615829-45615830
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1055395	1.00[EUR][1000 genomes]
rs11070455	1.00[EUR][1000 genomes]
rs1145072	1.00[EUR][1000 genomes]
rs1145073	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs1145082	1.00[EUR][1000 genomes]
rs1145092	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1145094	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153850	1.00[EUR][1000 genomes]
rs1153851	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs1153856	1.00[EUR][1000 genomes]
rs1153859	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1288847	0.91[GIH][hapmap]
rs1346265	1.00[EUR][1000 genomes]
rs1403319	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1464558	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1648301	0.92[GIH][hapmap]
rs16940558	0.92[GIH][hapmap]
rs16941118	1.00[GIH][hapmap]
rs16941127	1.00[GIH][hapmap]
rs16941245	1.00[GIH][hapmap]
rs16942796	1.00[GIH][hapmap]
rs1706775	0.82[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706781	0.95[AMR][1000 genomes]
rs1706782	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706783	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706784	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706786	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706788	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706789	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706790	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706794	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706795	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706796	0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1706797	0.83[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1719242	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17215605	0.85[AMR][1000 genomes]
rs1874318	1.00[EUR][1000 genomes]
rs2217121	1.00[EUR][1000 genomes]
rs2413770	0.85[AMR][1000 genomes]
rs2433603	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433604	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2433605	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs2433606	1.00[EUR][1000 genomes]
rs2433609	1.00[EUR][1000 genomes]
rs2433610	1.00[EUR][1000 genomes]
rs2453544	1.00[EUR][1000 genomes]
rs2461704	1.00[EUR][1000 genomes]
rs2467852	1.00[EUR][1000 genomes]
rs2467855	1.00[EUR][1000 genomes]
rs2467856	1.00[EUR][1000 genomes]
rs2467857	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs2467873	0.91[GIH][hapmap]
rs2486271	1.00[EUR][1000 genomes]
rs2486289	0.85[GIH][hapmap];1.00[EUR][1000 genomes]
rs2486290	1.00[EUR][1000 genomes]
rs2668740	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687513	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56166527	0.85[AMR][1000 genomes]
rs57553327	1.00[EUR][1000 genomes]
rs7163395	1.00[EUR][1000 genomes]
rs7163751	1.00[EUR][1000 genomes]
rs7164252	1.00[EUR][1000 genomes]
rs7169175	1.00[EUR][1000 genomes]
rs7173541	1.00[EUR][1000 genomes]
rs7173715	0.92[GIH][hapmap]
rs7179186	1.00[EUR][1000 genomes]
rs7179844	1.00[EUR][1000 genomes]
rs74009622	1.00[EUR][1000 genomes]
rs8023604	0.85[AMR][1000 genomes]
rs8028061	1.00[EUR][1000 genomes]
rs8033329	1.00[EUR][1000 genomes]
rs8039041	0.92[GIH][hapmap]
rs8040380	1.00[EUR][1000 genomes]
rs9806260	1.00[EUR][1000 genomes]
rs9972443	1.00[GIH][hapmap]
rs9972564	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv977713	chr15:45611707-45620772	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45613600-45622000	Weak transcription	Pancreas	Pancrea
2	chr15:45613800-45618200	Weak transcription	Fetal Brain Male	brain
3	chr15:45614200-45616000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr15:45614200-45619000	Weak transcription	Fetal Brain Female	brain
5	chr15:45615400-45616200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:45615600-45616000	Enhancers	Gastric	stomach
7	chr15:45615600-45616200	Enhancers	Fetal Intestine Large	intestine
8	chr15:45615600-45616200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr15:45615600-45616200	Enhancers	Stomach Mucosa	stomach
10	chr15:45615800-45616200	Enhancers	Fetal Intestine Small	intestine

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