Variant report

Variant	rs488606
Chromosome Location	chr1:59017149-59017150
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	chr1:59017040-59017726	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
ENSG00000162600	Chromatin interaction
ENSG00000270209	Chromatin interaction
ENSG00000173406	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10218842	0.94[EUR][1000 genomes]
rs10489816	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11207256	1.00[CEU][hapmap];0.92[YRI][hapmap];0.97[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	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11799415	0.94[EUR][1000 genomes]
rs11799786	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11800241	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11801938	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs11802520	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11803703	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs11805031	1.00[CEU][hapmap];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	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11808438	0.88[EUR][1000 genomes]
rs11808738	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11809508	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs11809967	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12024500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1503646	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1503647	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1503648	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1627332	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17117574	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17117627	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17117643	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs17117647	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17117678	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17447078	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17498811	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs17506467	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1775001	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs179798	0.84[CEU][hapmap]
rs1847350	0.92[EUR][1000 genomes]
rs1847351	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1891435	1.00[CEU][hapmap];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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2811864	1.00[JPT][hapmap]
rs338234	1.00[CEU][hapmap];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]
rs4912196	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4912340	0.86[EUR][1000 genomes]
rs4912341	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4912342	0.94[EUR][1000 genomes]
rs4912343	0.94[EUR][1000 genomes]
rs4912345	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs4912346	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs4912347	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs492988	1.00[CEU][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511687	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512462	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs518070	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs530095	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532134	1.00[CEU][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542727	1.00[CEU][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs544596	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs546271	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs546358	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs548275	0.95[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	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565008	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565617	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs565954	1.00[CEU][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs567787	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs573135	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs586847	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs593279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs594973	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs595909	0.87[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	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs627633	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs628623	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs635775	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs641929	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs644928	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs654299	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs657202	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs657711	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6587817	0.85[EUR][1000 genomes]
rs6587829	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs664570	0.92[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	0.90[CEU][hapmap];0.92[YRI][hapmap];0.99[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	0.91[CEU][hapmap];0.97[EUR][1000 genomes]
rs6684553	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6686976	0.86[EUR][1000 genomes]
rs6694699	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6698355	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs671830	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs672859	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs673276	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs675919	1.00[JPT][hapmap]
rs725907	0.88[EUR][1000 genomes]
rs7354819	0.94[EUR][1000 genomes]
rs7355030	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7511732	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7513876	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7514159	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519465	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7535313	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs7536984	0.94[EUR][1000 genomes]
rs7537470	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs7547348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548097	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs9583	1.00[CEU][hapmap];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
rs488606	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 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	chr1:59014600-59018000	Enhancers	Fetal Lung	lung
4	chr1:59014800-59017400	Weak transcription	Ovary	ovary
5	chr1:59015800-59017800	Enhancers	K562	blood
6	chr1:59016400-59017400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:59016600-59017200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:59016600-59017200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:59016600-59018000	Enhancers	Fetal Muscle Leg	muscle
10	chr1:59016800-59017200	Enhancers	Fetal Kidney	kidney
11	chr1:59016800-59017600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:59017000-59017600	Active TSS	Fetal Brain Male	brain

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