Variant report

Variant	rs859248
Chromosome Location	chr17:15811871-15811872
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15811001..15813774-chr17:15817788..15820656,2	K562	blood:
2	chr17:15811700..15814068-chr17:15815539..15817502,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11654524	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11655374	0.87[ASN][1000 genomes]
rs11656489	0.87[ASN][1000 genomes]
rs11656518	0.87[ASN][1000 genomes]
rs11658370	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11658454	0.90[ASN][1000 genomes]
rs11658480	0.82[ASN][1000 genomes]
rs11658871	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12051835	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12603728	0.93[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs12603863	0.90[ASN][1000 genomes]
rs1558409	0.85[ASN][1000 genomes]
rs1613538	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1639393	0.90[ASN][1000 genomes]
rs1639394	0.95[ASN][1000 genomes]
rs17776817	0.84[ASN][1000 genomes]
rs1797453	0.95[ASN][1000 genomes]
rs1797460	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1797462	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1889021	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1974626	0.85[ASN][1000 genomes]
rs2429742	0.95[ASN][1000 genomes]
rs2535598	0.95[ASN][1000 genomes]
rs2535599	0.95[ASN][1000 genomes]
rs2535609	0.90[JPT][hapmap]
rs2586557	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2779187	0.94[ASN][1000 genomes]
rs35743185	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744329	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3744330	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3859260	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4297751	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4791653	0.93[ASN][1000 genomes]
rs4792704	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4792705	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs481648	0.81[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs62072029	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62072030	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62072031	0.93[ASN][1000 genomes]
rs62072032	0.90[ASN][1000 genomes]
rs62072033	0.93[ASN][1000 genomes]
rs62072034	0.91[ASN][1000 genomes]
rs62072052	0.87[ASN][1000 genomes]
rs62072161	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62072162	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62072168	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62072173	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62072198	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62072201	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62072203	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62072205	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6502475	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs708590	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs708591	0.86[CEU][hapmap];0.84[CHB][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214215	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7218000	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7223657	0.88[ASN][1000 genomes]
rs7503620	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8076401	0.91[ASN][1000 genomes]
rs8079686	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8080194	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs859226	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859228	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859229	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs859230	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859232	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859233	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs859234	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859236	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859237	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859238	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs859240	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs859247	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859252	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859253	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859255	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859256	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs859257	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9893636	0.89[ASN][1000 genomes]
rs9894474	0.85[ASN][1000 genomes]
rs9901375	0.87[ASN][1000 genomes]
rs9903682	0.87[ASN][1000 genomes]
rs9907878	0.89[ASN][1000 genomes]
rs9912875	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15797200-15812600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:15809800-15820800	Weak transcription	Gastric	stomach
3	chr17:15810400-15813200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:15811200-15812000	Enhancers	Left Ventricle	heart
5	chr17:15811600-15813400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:15811600-15816600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:15811800-15812000	Enhancers	Pancreas	Pancrea
8	chr17:15811800-15812200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:15811800-15813200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr17:15811800-15813400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr17:15811800-15813400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr17:15811800-15813400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:15811800-15814600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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