Variant report

Variant	rs11808738
Chromosome Location	chr1:58979488-58979489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58977602..58982967-chr1:59116778..59119321,4	MCF-7	breast:
2	chr1:58977617..58979668-chr1:58980963..58982878,2	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10218842	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10489816	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11207256	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11207257	0.86[EUR][1000 genomes]
rs11799408	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs11799415	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11799786	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11800241	1.00[CEU][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs11801938	0.86[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11802520	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs11803703	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805031	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805701	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11805835	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11807046	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11807197	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11808437	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11808438	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11809508	0.86[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12024500	0.86[EUR][1000 genomes]
rs1503646	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1503647	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1503648	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1627332	1.00[CEU][hapmap]
rs17117574	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117627	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17117643	0.86[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17117647	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17117678	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17447078	1.00[CEU][hapmap];0.89[YRI][hapmap];0.92[EUR][1000 genomes]
rs17498811	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs17506467	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1775001	1.00[CEU][hapmap]
rs179798	0.86[CEU][hapmap]
rs1847350	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1847351	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1891435	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271005	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2406783	0.86[EUR][1000 genomes]
rs338234	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41296155	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs488606	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4912196	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4912340	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4912341	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4912342	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4912343	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4912345	0.92[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4912346	0.86[CEU][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4912347	1.00[CEU][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes]
rs492988	1.00[CEU][hapmap]
rs518070	1.00[CEU][hapmap]
rs530095	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs532134	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs542727	1.00[CEU][hapmap]
rs546271	1.00[CEU][hapmap]
rs55712302	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55721304	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56054934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs564252	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs565008	0.80[EUR][1000 genomes]
rs565954	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs593279	0.86[EUR][1000 genomes]
rs61629658	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61781782	1.00[EUR][1000 genomes]
rs61781784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61781785	1.00[EUR][1000 genomes]
rs61781787	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61781789	1.00[EUR][1000 genomes]
rs61781790	1.00[EUR][1000 genomes]
rs61781792	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61781813	0.92[EUR][1000 genomes]
rs61781815	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs61781816	0.92[EUR][1000 genomes]
rs61781818	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61781819	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61781821	0.81[EUR][1000 genomes]
rs61781822	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61781823	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61781824	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs621754	1.00[CEU][hapmap]
rs627633	1.00[CEU][hapmap]
rs628623	1.00[CEU][hapmap]
rs635775	1.00[CEU][hapmap]
rs644928	0.86[EUR][1000 genomes]
rs654299	1.00[CEU][hapmap]
rs6587817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587829	0.92[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6658743	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6662028	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662905	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6663128	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6665320	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs6682499	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6682661	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6682720	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6684437	0.92[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6684553	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6686976	0.83[EUR][1000 genomes]
rs6694699	1.00[CEU][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6698355	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs671830	0.80[EUR][1000 genomes]
rs672859	0.80[EUR][1000 genomes]
rs673276	0.80[EUR][1000 genomes]
rs725907	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7354819	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7355030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7511732	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7513876	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7514159	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7535313	0.92[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7536984	0.92[EUR][1000 genomes]
rs7537470	0.92[CEU][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7547348	0.86[EUR][1000 genomes]
rs7548097	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9583	1.00[CEU][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	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
4	nsv998092	chr1:58978327-59002319	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11808738	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58931200-59010800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:58933800-58984800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:58934800-58994000	Weak transcription	HSMM	muscle
4	chr1:58946200-58979600	Weak transcription	GM12878-XiMat	blood
5	chr1:58946400-58993800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:58953200-58986000	Weak transcription	Colonic Mucosa	Colon
7	chr1:58953600-58999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:58955000-58986400	Weak transcription	Gastric	stomach
9	chr1:58955000-58988200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:58963800-58999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:58964800-58986400	Weak transcription	K562	blood
12	chr1:58966600-59010600	Weak transcription	Placenta	Placenta
13	chr1:58967600-59010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:58968200-58986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:58968400-58984600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:58973800-58980600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr1:58974600-58987600	Weak transcription	Right Ventricle	heart
18	chr1:58974800-58981800	Weak transcription	Brain Substantia Nigra	brain
19	chr1:58974800-58984600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:58974800-58984600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:58974800-58984800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:58974800-58991600	Weak transcription	Esophagus	oesophagus
23	chr1:58974800-59005000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:58974800-59010800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:58974800-59011800	Weak transcription	Spleen	Spleen
26	chr1:58975000-59010600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:58975000-59010800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:58976600-58980600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:58976800-58980400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:58977000-58980200	Strong transcription	Liver	Liver
31	chr1:58977000-58980800	Strong transcription	Primary T cells from cord blood	blood
32	chr1:58977000-58980800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:58977000-58993000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:58977200-58979800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:58977200-58980200	Weak transcription	NHEK	skin
36	chr1:58977200-58980800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:58977200-58981800	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:58977200-58982400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:58977200-58984600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:58977200-58994000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:58977200-59005000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:58977200-59010800	Weak transcription	Brain Angular Gyrus	brain
43	chr1:58977200-59011400	Weak transcription	Ovary	ovary
44	chr1:58977400-58980400	Weak transcription	Pancreas	Pancrea
45	chr1:58977400-58980800	Strong transcription	Primary B cells from cord blood	blood
46	chr1:58977400-58981800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:58977400-58982200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr1:58977400-58982200	Weak transcription	HSMMtube	muscle
49	chr1:58977400-58982400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:58977400-58983400	Weak transcription	Primary monocytes fromperipheralblood	blood

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