Variant report

Variant	rs6863162
Chromosome Location	chr5:49902564-49902565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10050585	0.84[ASN][1000 genomes]
rs10055793	0.84[ASN][1000 genomes]
rs10057335	0.84[ASN][1000 genomes]
rs10461587	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10471915	0.84[ASN][1000 genomes]
rs10940423	0.86[ASN][1000 genomes]
rs10940424	0.83[ASN][1000 genomes]
rs10940425	0.88[EUR][1000 genomes]
rs11738761	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11745945	1.00[ASN][1000 genomes]
rs12653803	0.88[ASN][1000 genomes]
rs13355434	0.89[EUR][1000 genomes]
rs13356533	0.88[ASN][1000 genomes]
rs1839128	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1900738	0.88[ASN][1000 genomes]
rs1972980	0.92[ASN][1000 genomes]
rs2034393	1.00[ASN][1000 genomes]
rs2121979	1.00[ASN][1000 genomes]
rs2166893	1.00[ASN][1000 genomes]
rs2166894	1.00[ASN][1000 genomes]
rs2354526	0.84[ASN][1000 genomes]
rs28810787	0.84[ASN][1000 genomes]
rs35167447	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35667121	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4282859	0.92[ASN][1000 genomes]
rs4440312	0.92[ASN][1000 genomes]
rs4572006	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865894	0.89[EUR][1000 genomes]
rs4865895	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4865896	0.93[AFR][1000 genomes]
rs56052855	0.80[AMR][1000 genomes]
rs6450292	0.88[ASN][1000 genomes]
rs6450301	0.84[ASN][1000 genomes]
rs6863575	0.89[ASN][1000 genomes]
rs6867590	0.89[ASN][1000 genomes]
rs6868550	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6869906	0.81[EUR][1000 genomes]
rs6872070	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6883718	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6887758	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893665	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7702541	0.88[ASN][1000 genomes]
rs7721050	0.92[ASN][1000 genomes]
rs7736142	0.88[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	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv964850	chr5:49883635-49942856	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv14399	chr5:49885912-49934455	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6863162	LOC647121	Cis_1M	lymphoblastoid	RTeQTL
rs6863162	PARP8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49896000-49903400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:49902000-49902800	Enhancers	Hela-S3	cervix

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