Variant report

Variant	rs11207256
Chromosome Location	chr1:59013239-59013240
allele	G/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:6)
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	CTCF	chr1:59011158-59013282	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59012212..59014754-chr1:91486233..91488935,2	K562	blood:
2	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:
3	chr1:59010376..59013266-chr1:59015138..59019159,5	K562	blood:
4	chr1:59012111..59013968-chr19:54693978..54696098,2	MCF-7	breast:
5	chr1:59009849..59013755-chr1:59040870..59045611,9	MCF-7	breast:
6	chr1:59010302..59014215-chr1:59041338..59045361,8	MCF-7	breast:

No data

Variant related genes	Relation type
DAB1	TF binding region
OMA1	TF binding region
ENSG00000270209	Chromatin interaction
ENSG00000184292	Chromatin interaction
ENSG00000122482	Chromatin interaction
ENSG00000170892	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10218842	0.94[EUR][1000 genomes]
rs10489816	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[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	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11802520	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11803703	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	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11809967	0.88[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	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];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17117574	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs17117627	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs17117643	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs17117647	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17117678	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17447078	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17498811	0.91[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs17506467	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1775001	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs179798	0.92[CEU][hapmap]
rs1847350	0.92[EUR][1000 genomes]
rs1847351	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1891435	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs338234	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][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]
rs488606	1.00[CEU][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4912346	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs4912347	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs492988	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs511687	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512462	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs518070	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs530095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532134	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542727	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs544596	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs546271	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[YRI][hapmap];0.92[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	0.92[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];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565008	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565617	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs565954	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs567787	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs573135	0.92[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	0.97[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	0.84[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];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs627633	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs628623	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs635775	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs641929	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs644928	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs654299	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs657202	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs657711	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6587817	0.85[EUR][1000 genomes]
rs6587829	0.92[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs664570	0.89[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	0.91[CEU][hapmap];1.00[YRI][hapmap];0.98[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	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6684553	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][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];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs671830	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs672859	0.92[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	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][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];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7514159	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519465	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7535313	0.92[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs7536984	0.94[EUR][1000 genomes]
rs7537470	0.92[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs7547348	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548097	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs9583	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11207256	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL
rs11207256	OMA1	cis	cerebellum	SCAN
rs11207256	C1orf168	cis	parietal	SCAN

Chromatin state (count:30 , 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	chr1:59012800-59013800	Weak transcription	Esophagus	oesophagus
4	chr1:59012800-59014200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr1:59012800-59014200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:59012800-59014200	Weak transcription	Fetal Intestine Large	intestine
7	chr1:59012800-59014200	Weak transcription	Ovary	ovary
8	chr1:59012800-59014600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:59012800-59014600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:59012800-59014800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:59012800-59015200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:59012800-59016000	Enhancers	HepG2	liver
13	chr1:59012800-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:59012800-59017400	Weak transcription	Pancreas	Pancrea
15	chr1:59012800-59017600	Weak transcription	Aorta	Aorta
16	chr1:59013000-59013400	Enhancers	Fetal Stomach	stomach
17	chr1:59013000-59013400	Enhancers	K562	blood
18	chr1:59013000-59014400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:59013000-59014400	Weak transcription	Fetal Kidney	kidney
20	chr1:59013000-59014600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:59013000-59014600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:59013000-59014800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:59013000-59014800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr1:59013000-59016600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:59013000-59016600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:59013000-59016600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:59013200-59013400	Enhancers	Dnd41	blood
28	chr1:59013200-59014600	Weak transcription	Fetal Heart	heart
29	chr1:59013200-59014600	Weak transcription	Fetal Lung	lung
30	chr1:59013200-59017000	Weak transcription	Fetal Brain Male	brain

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