Variant report

Variant	rs4944019
Chromosome Location	chr11:72615540-72615541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1025411	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10732893	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736788	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10736789	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10736791	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10751219	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10898888	1.00[EUR][1000 genomes]
rs10898892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11235608	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824394	1.00[EUR][1000 genomes]
rs12099370	1.00[EUR][1000 genomes]
rs1380574	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1380575	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2060072	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2365906	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3903492	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4373969	1.00[EUR][1000 genomes]
rs4594026	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4944015	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs4944814	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944817	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs55787543	1.00[EUR][1000 genomes]
rs55838097	1.00[EUR][1000 genomes]
rs55888199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56133665	1.00[EUR][1000 genomes]
rs56154220	1.00[EUR][1000 genomes]
rs56283764	1.00[EUR][1000 genomes]
rs56316448	1.00[EUR][1000 genomes]
rs57731198	1.00[EUR][1000 genomes]
rs58192366	1.00[EUR][1000 genomes]
rs59925945	1.00[EUR][1000 genomes]
rs60219481	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60812177	1.00[EUR][1000 genomes]
rs60877622	1.00[EUR][1000 genomes]
rs6592494	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6592495	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs6592502	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102424	1.00[EUR][1000 genomes]
rs7107817	1.00[EUR][1000 genomes]
rs7115321	1.00[EUR][1000 genomes]
rs7117786	1.00[EUR][1000 genomes]
rs7118144	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122566	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7130559	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72984941	0.83[EUR][1000 genomes]
rs72984946	1.00[EUR][1000 genomes]
rs72984947	1.00[EUR][1000 genomes]
rs72984948	1.00[EUR][1000 genomes]
rs7395081	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7930535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7946019	1.00[EUR][1000 genomes]
rs7951614	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs898384	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs975261	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994305	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[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	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72577200-72651600	Weak transcription	Gastric	stomach
3	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
5	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
6	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:72597200-72634200	Weak transcription	NHLF	lung
8	chr11:72597600-72617600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:72599400-72632400	Weak transcription	HUVEC	blood vessel
10	chr11:72600800-72623600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:72600800-72632600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:72600800-72653200	Weak transcription	Lung	lung
13	chr11:72601000-72620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:72601000-72624000	Weak transcription	Thymus	Thymus
15	chr11:72601000-72636800	Weak transcription	Spleen	Spleen
16	chr11:72601000-72641200	Weak transcription	HSMMtube	muscle
17	chr11:72601200-72616400	Weak transcription	Adipose Nuclei	Adipose
18	chr11:72601200-72616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:72601200-72617400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:72601200-72617600	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:72601200-72617600	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:72601200-72617800	Weak transcription	Fetal Lung	lung
23	chr11:72601200-72619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:72601200-72622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:72601200-72623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:72601200-72623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:72601200-72636000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:72601400-72615600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:72601400-72616200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:72601400-72619400	Weak transcription	Dnd41	blood
31	chr11:72601400-72632400	Weak transcription	Ovary	ovary
32	chr11:72601800-72636000	Weak transcription	Osteobl	bone
33	chr11:72602200-72636800	Weak transcription	Left Ventricle	heart
34	chr11:72605600-72624000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:72607000-72643000	Weak transcription	HSMM	muscle
36	chr11:72607600-72620000	Weak transcription	Placenta	Placenta
37	chr11:72608800-72623600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:72609800-72617600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr11:72610200-72615600	Strong transcription	GM12878-XiMat	blood
40	chr11:72611200-72615600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:72611600-72622400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr11:72611800-72623000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:72612400-72649000	Weak transcription	Aorta	Aorta
44	chr11:72612800-72617600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:72613400-72615800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr11:72613800-72616000	Weak transcription	Fetal Thymus	thymus
47	chr11:72613800-72617400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:72613800-72617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:72614200-72616600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr11:72614200-72640400	Weak transcription	Rectal Mucosa Donor 29	rectum

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