Variant report

Variant	rs3741034
Chromosome Location	chr11:10598395-10598396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10219205	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10219352	0.82[ASN][1000 genomes]
rs1062912	0.90[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs10770123	0.87[TSI][hapmap]
rs10770126	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.81[ASN][1000 genomes]
rs10840438	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840440	0.90[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10840441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840443	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs10840444	0.82[ASN][1000 genomes]
rs10840446	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10840448	0.81[ASN][1000 genomes]
rs11042875	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042876	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11042877	0.90[CHB][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11042879	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042882	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs11042883	0.85[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs11042894	0.82[ASN][1000 genomes]
rs11042895	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11042897	0.81[ASN][1000 genomes]
rs11042898	0.84[ASN][1000 genomes]
rs11827503	0.84[ASN][1000 genomes]
rs12288969	0.89[ASN][1000 genomes]
rs12576545	0.84[ASN][1000 genomes]
rs12576547	0.81[ASN][1000 genomes]
rs16907989	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1964537	0.90[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1993818	0.87[TSI][hapmap]
rs1993819	0.87[TSI][hapmap]
rs2241489	0.82[ASN][1000 genomes]
rs2278125	0.80[CHB][hapmap];0.82[MEX][hapmap]
rs2288236	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs34988160	0.81[ASN][1000 genomes]
rs3741033	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs3741042	0.84[ASN][1000 genomes]
rs4910153	0.87[TSI][hapmap]
rs4910162	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7114453	0.82[ASN][1000 genomes]
rs7114603	0.84[ASN][1000 genomes]
rs7115310	0.90[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs7115735	0.81[ASN][1000 genomes]
rs7118551	0.87[ASN][1000 genomes]
rs7126245	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.84[ASN][1000 genomes]
rs724723	0.82[ASN][1000 genomes]
rs7358373	0.90[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs746164	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs749045	0.81[ASN][1000 genomes]
rs7941294	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs881436	0.81[ASN][1000 genomes]
rs918981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs964426	0.82[ASN][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3741034	AMPD3	cis	cerebellum	SCAN
rs3741034	RNF141	cis	parietal	SCAN
rs3741034	MRVI1	cis	normal skin	skin_eQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10573000-10603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10580600-10609800	Weak transcription	Thymus	Thymus
3	chr11:10583000-10600000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:10583200-10601800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:10586400-10620400	Weak transcription	Brain Anterior Caudate	brain
6	chr11:10587600-10605000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:10588600-10602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:10590600-10600200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:10590600-10601600	Weak transcription	Adipose Nuclei	Adipose
10	chr11:10590600-10605600	Weak transcription	NH-A	brain
11	chr11:10590600-10611200	Weak transcription	Pancreas	Pancrea
12	chr11:10590800-10608200	Weak transcription	NHDF-Ad	bronchial
13	chr11:10591400-10603200	Weak transcription	Osteobl	bone
14	chr11:10591800-10600400	Weak transcription	Brain Substantia Nigra	brain
15	chr11:10592000-10600200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:10592000-10602800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:10592000-10608000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:10592400-10622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:10592600-10601800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:10593400-10605000	Weak transcription	Gastric	stomach
21	chr11:10594000-10603600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:10594000-10605000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:10594400-10600000	Strong transcription	Fetal Stomach	stomach
24	chr11:10594400-10606000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:10595000-10629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:10595000-10632800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:10595200-10600200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:10595200-10601600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:10595400-10598800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:10595400-10600400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:10595400-10615400	Weak transcription	Brain Angular Gyrus	brain
32	chr11:10595600-10603200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:10595800-10599000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:10595800-10600000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:10595800-10601000	Strong transcription	Colon Smooth Muscle	Colon
36	chr11:10595800-10601200	Weak transcription	Placenta	Placenta
37	chr11:10595800-10602600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:10595800-10605200	Strong transcription	Aorta	Aorta
39	chr11:10595800-10608400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:10596000-10599000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:10596000-10600400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr11:10596000-10601400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:10596200-10600200	Weak transcription	HUVEC	blood vessel
44	chr11:10596200-10601200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:10596400-10600400	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:10596400-10601400	Weak transcription	Lung	lung
47	chr11:10596600-10598800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:10596800-10599200	Strong transcription	Primary B cells from cord blood	blood
49	chr11:10596800-10600200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:10597000-10599000	Strong transcription	Monocytes-CD14+_RO01746	blood

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