Variant report

Variant	rs4840513
Chromosome Location	chr8:10612806-10612807
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10592393..10594061-chr8:10610774..10613759,2	K562	blood:
2	chr8:10591978..10593893-chr8:10610774..10613689,2	K562	blood:
3	chr8:10611693..10613429-chr8:10616715..10619425,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10089615	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10091836	0.80[ASN][1000 genomes]
rs10092781	0.80[ASN][1000 genomes]
rs10097283	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10098699	0.80[EUR][1000 genomes]
rs10100265	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10107289	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10113343	0.82[ASN][1000 genomes]
rs10481451	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1073913	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1115866	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1115867	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1124010	0.84[ASN][1000 genomes]
rs11250069	0.84[ASN][1000 genomes]
rs11250074	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11250077	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11250078	0.82[EUR][1000 genomes]
rs12542888	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12676417	0.82[EUR][1000 genomes]
rs13276026	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1430867	0.84[ASN][1000 genomes]
rs17152302	0.84[ASN][1000 genomes]
rs17152305	0.84[ASN][1000 genomes]
rs1821002	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1897207	0.97[ASN][1000 genomes]
rs1968400	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1968401	0.99[ASN][1000 genomes]
rs2005309	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2116092	0.84[ASN][1000 genomes]
rs2116093	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2116095	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280047	0.84[ASN][1000 genomes]
rs2409658	0.81[EUR][1000 genomes]
rs2409663	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409669	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2409672	0.84[ASN][1000 genomes]
rs2409674	0.83[ASN][1000 genomes]
rs2409675	0.84[ASN][1000 genomes]
rs28570522	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2898248	0.92[ASN][1000 genomes]
rs2898251	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34653170	0.80[EUR][1000 genomes]
rs4240669	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4240670	0.82[EUR][1000 genomes]
rs4321967	0.93[ASN][1000 genomes]
rs4504595	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4551304	0.82[EUR][1000 genomes]
rs4593498	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4840512	0.84[ASN][1000 genomes]
rs4840516	0.82[EUR][1000 genomes]
rs4841436	0.82[ASN][1000 genomes]
rs4841437	0.84[ASN][1000 genomes]
rs4841441	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6601513	0.83[ASN][1000 genomes]
rs6601520	0.81[ASN][1000 genomes]
rs6601521	0.95[ASN][1000 genomes]
rs6601522	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601523	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6601525	0.82[ASN][1000 genomes]
rs6601529	0.82[EUR][1000 genomes]
rs6981530	0.85[ASN][1000 genomes]
rs6984744	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989072	0.82[ASN][1000 genomes]
rs6989370	0.99[ASN][1000 genomes]
rs6993841	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6994595	0.82[ASN][1000 genomes]
rs7002117	0.99[ASN][1000 genomes]
rs7002137	0.86[ASN][1000 genomes]
rs7002282	0.82[EUR][1000 genomes]
rs7010926	0.80[ASN][1000 genomes]
rs7014285	0.86[ASN][1000 genomes]
rs7018334	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs718741	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs718742	0.99[ASN][1000 genomes]
rs733395	0.84[ASN][1000 genomes]
rs733396	0.84[ASN][1000 genomes]
rs73542560	0.84[ASN][1000 genomes]
rs73544343	0.82[ASN][1000 genomes]
rs736668	0.84[ASN][1000 genomes]
rs736669	0.84[ASN][1000 genomes]
rs752446	0.88[ASN][1000 genomes]
rs7813706	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7814142	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7814757	0.81[EUR][1000 genomes]
rs7823088	0.80[ASN][1000 genomes]
rs7826180	0.82[ASN][1000 genomes]
rs7826189	0.80[ASN][1000 genomes]
rs7826218	0.84[ASN][1000 genomes]
rs7826392	0.84[ASN][1000 genomes]
rs7834466	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs891556	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs919555	0.84[ASN][1000 genomes]
rs9329231	0.99[ASN][1000 genomes]
rs9969626	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS 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	37 gene(s)	inside rSNPs	diseases
4	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer 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 miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv519768	chr8:10600254-10691993	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1024806	chr8:10605438-10662555	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
13	nsv1031709	chr8:10610545-10657726	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv2764105	chr8:10610557-10657726	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv519376	chr8:10611708-10691993	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4840513	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10609600-10614000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:10609600-10616200	Weak transcription	Primary T cells from cord blood	blood
3	chr8:10610000-10621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:10610400-10614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10610600-10620400	Weak transcription	HepG2	liver
6	chr8:10610800-10622200	Weak transcription	Primary B cells from cord blood	blood
7	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:10611200-10624400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:10612600-10617600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:10612600-10621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:10612800-10621600	Weak transcription	Spleen	Spleen

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