Variant report

Variant	rs7547348
Chromosome Location	chr1:59014673-59014674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:59014648-59015535	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59012212..59014754-chr1:91486233..91488935,2	K562	blood:
2	chr1:58981796..58983981-chr1:59013881..59016702,2	K562	blood:
3	chr1:59013352..59015102-chr1:59015166..59016765,2	MCF-7	breast:
4	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:

Variant related genes	Relation type
DAB1	TF binding region
OMA1	TF binding region
ENSG00000162600	Chromatin interaction
ENSG00000173406	Chromatin interaction
ENSG00000122482	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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11207257	0.98[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	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12024500	1.00[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	0.93[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	0.93[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	0.99[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	0.98[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	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511687	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512462	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs518070	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs530095	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532134	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542727	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs544596	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs546271	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs546358	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs548275	0.93[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	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565008	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565617	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs565954	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs567787	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs573135	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs586847	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs593279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs594973	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs595909	0.85[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	0.90[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	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs635775	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs641929	0.89[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	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs657202	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs657711	0.93[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	0.90[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	0.99[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	0.97[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	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs672859	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs673276	0.91[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7514159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519465	0.92[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]
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
rs7547348	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59012400-59015400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:59012600-59016200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:59012800-59014800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:59012800-59015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:59012800-59016000	Enhancers	HepG2	liver
6	chr1:59012800-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:59012800-59017400	Weak transcription	Pancreas	Pancrea
8	chr1:59012800-59017600	Weak transcription	Aorta	Aorta
9	chr1:59013000-59014800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:59013000-59014800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:59013000-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:59013000-59016600	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:59013000-59016600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:59013200-59017000	Weak transcription	Fetal Brain Male	brain
15	chr1:59013800-59015200	Enhancers	K562	blood
16	chr1:59014200-59014800	Enhancers	Fetal Intestine Large	intestine
17	chr1:59014200-59014800	Enhancers	Ovary	ovary
18	chr1:59014200-59015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:59014400-59015800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:59014600-59014800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:59014600-59014800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:59014600-59014800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:59014600-59014800	Enhancers	Esophagus	oesophagus
24	chr1:59014600-59014800	Enhancers	Fetal Heart	heart
25	chr1:59014600-59014800	Flanking Active TSS	Fetal Kidney	kidney
26	chr1:59014600-59016400	Enhancers	Fetal Intestine Small	intestine
27	chr1:59014600-59018000	Enhancers	Fetal Lung	lung

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