Variant report

Variant	rs644928
Chromosome Location	chr1:59016769-59016770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:59016487-59016830	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59015745..59017645-chr1:59037039..59039268,2	MCF-7	breast:
2	chr1:59014802..59017431-chr1:59018623..59020469,2	K562	blood:
3	chr1:59010376..59013266-chr1:59015138..59019159,5	K562	blood:
4	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:
5	chr1:59016703..59018879-chr1:59019511..59022413,2	K562	blood:

No data

Variant related genes	Relation type
OMA1	TF binding region
DAB1	TF binding region
ENSG00000270209	Chromatin interaction
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction

Extended variants
information (count: 143 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10218842	0.94[EUR][1000 genomes]
rs10489816	0.86[EUR][1000 genomes]
rs11207256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11207257	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799408	0.92[EUR][1000 genomes]
rs11799415	0.94[EUR][1000 genomes]
rs11799786	0.94[EUR][1000 genomes]
rs11800241	1.00[EUR][1000 genomes]
rs11801938	0.88[EUR][1000 genomes]
rs11802520	0.92[EUR][1000 genomes]
rs11803703	0.86[EUR][1000 genomes]
rs11805031	0.86[EUR][1000 genomes]
rs11805701	0.86[EUR][1000 genomes]
rs11805835	0.86[EUR][1000 genomes]
rs11807046	0.94[EUR][1000 genomes]
rs11807197	0.86[EUR][1000 genomes]
rs11808437	0.97[EUR][1000 genomes]
rs11808438	0.88[EUR][1000 genomes]
rs11808738	0.86[EUR][1000 genomes]
rs11809508	0.86[EUR][1000 genomes]
rs11809967	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12024500	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1503646	0.86[EUR][1000 genomes]
rs1503647	0.94[EUR][1000 genomes]
rs1503648	0.94[EUR][1000 genomes]
rs1627332	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17117574	0.86[EUR][1000 genomes]
rs17117627	0.86[EUR][1000 genomes]
rs17117643	0.86[EUR][1000 genomes]
rs17117647	0.94[EUR][1000 genomes]
rs17117678	0.94[EUR][1000 genomes]
rs17447078	0.94[EUR][1000 genomes]
rs17498811	0.82[EUR][1000 genomes]
rs17506467	0.97[EUR][1000 genomes]
rs1775001	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1847350	0.92[EUR][1000 genomes]
rs1847351	0.94[EUR][1000 genomes]
rs1891435	0.86[EUR][1000 genomes]
rs2271005	0.86[EUR][1000 genomes]
rs232843	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs232845	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs232846	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2406783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs338234	0.85[EUR][1000 genomes]
rs35075952	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41296155	0.97[EUR][1000 genomes]
rs41311174	0.92[EUR][1000 genomes]
rs488606	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4912196	0.86[EUR][1000 genomes]
rs4912340	0.86[EUR][1000 genomes]
rs4912341	0.94[EUR][1000 genomes]
rs4912342	0.94[EUR][1000 genomes]
rs4912343	0.94[EUR][1000 genomes]
rs4912345	0.88[EUR][1000 genomes]
rs4912346	0.88[EUR][1000 genomes]
rs4912347	1.00[EUR][1000 genomes]
rs492988	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511687	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512462	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs518070	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs530095	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532134	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542727	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs544596	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs546271	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs546358	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs548275	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55712302	0.94[EUR][1000 genomes]
rs55721304	0.97[EUR][1000 genomes]
rs56054934	0.85[EUR][1000 genomes]
rs56109164	0.89[EUR][1000 genomes]
rs564252	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565008	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565617	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs565954	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs567787	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs573135	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs586847	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs593279	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs594973	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs595909	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61629658	0.86[EUR][1000 genomes]
rs61779267	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61779289	0.92[EUR][1000 genomes]
rs61779290	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61779294	0.86[EUR][1000 genomes]
rs61781782	0.86[EUR][1000 genomes]
rs61781784	0.86[EUR][1000 genomes]
rs61781785	0.86[EUR][1000 genomes]
rs61781787	0.86[EUR][1000 genomes]
rs61781789	0.86[EUR][1000 genomes]
rs61781790	0.86[EUR][1000 genomes]
rs61781792	0.94[EUR][1000 genomes]
rs61781813	0.94[EUR][1000 genomes]
rs61781815	0.86[EUR][1000 genomes]
rs61781816	0.94[EUR][1000 genomes]
rs61781818	0.94[EUR][1000 genomes]
rs61781819	0.91[EUR][1000 genomes]
rs61781821	0.88[EUR][1000 genomes]
rs61781822	0.88[EUR][1000 genomes]
rs61781823	0.88[EUR][1000 genomes]
rs61781824	0.88[EUR][1000 genomes]
rs621754	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs627633	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs628623	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs635775	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs641929	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs654299	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs657202	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs657711	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6587817	0.85[EUR][1000 genomes]
rs6587829	0.88[EUR][1000 genomes]
rs664570	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6658743	0.85[EUR][1000 genomes]
rs6662028	0.86[EUR][1000 genomes]
rs6662905	0.93[EUR][1000 genomes]
rs6663128	0.89[EUR][1000 genomes]
rs6665320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6682499	0.97[EUR][1000 genomes]
rs6682661	0.97[EUR][1000 genomes]
rs6682720	0.97[EUR][1000 genomes]
rs6684437	0.97[EUR][1000 genomes]
rs6684553	0.97[EUR][1000 genomes]
rs6686976	0.86[EUR][1000 genomes]
rs6694699	0.86[EUR][1000 genomes]
rs6698355	0.97[EUR][1000 genomes]
rs671830	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs672859	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs673276	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs725907	0.88[EUR][1000 genomes]
rs7354819	0.94[EUR][1000 genomes]
rs7355030	0.94[EUR][1000 genomes]
rs7511732	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7513876	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7514159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519465	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7535313	0.88[EUR][1000 genomes]
rs7536984	0.94[EUR][1000 genomes]
rs7537470	0.88[EUR][1000 genomes]
rs7547348	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548097	0.97[EUR][1000 genomes]
rs9583	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs644928	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59012800-59017400	Weak transcription	Pancreas	Pancrea
2	chr1:59012800-59017600	Weak transcription	Aorta	Aorta
3	chr1:59013200-59017000	Weak transcription	Fetal Brain Male	brain
4	chr1:59014600-59018000	Enhancers	Fetal Lung	lung
5	chr1:59014800-59017400	Weak transcription	Ovary	ovary
6	chr1:59015800-59016800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:59015800-59017800	Enhancers	K562	blood
8	chr1:59016400-59016800	Weak transcription	Fetal Kidney	kidney
9	chr1:59016400-59016800	Enhancers	Placenta	Placenta
10	chr1:59016400-59017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:59016600-59017000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:59016600-59017000	Enhancers	Brain Hippocampus Middle	brain
13	chr1:59016600-59017200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:59016600-59017200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:59016600-59018000	Enhancers	Fetal Muscle Leg	muscle

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