Variant report

Variant	rs4944816
Chromosome Location	chr11:72614419-72614420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10793049	0.95[ASN][1000 genomes]
rs10898894	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12288580	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12289752	0.94[ASN][1000 genomes]
rs12293726	0.95[ASN][1000 genomes]
rs12294533	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55671951	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60355221	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[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	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:69 , 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	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72577200-72651600	Weak transcription	Gastric	stomach
4	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
6	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
8	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:72597200-72634200	Weak transcription	NHLF	lung
10	chr11:72597600-72617600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:72597800-72614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:72599200-72614800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:72599200-72614800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:72599400-72632400	Weak transcription	HUVEC	blood vessel
15	chr11:72599800-72614800	Weak transcription	Brain Germinal Matrix	brain
16	chr11:72600800-72615000	Weak transcription	Fetal Intestine Large	intestine
17	chr11:72600800-72623600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:72600800-72632600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:72600800-72653200	Weak transcription	Lung	lung
20	chr11:72601000-72614800	Weak transcription	Fetal Intestine Small	intestine
21	chr11:72601000-72620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:72601000-72624000	Weak transcription	Thymus	Thymus
23	chr11:72601000-72636800	Weak transcription	Spleen	Spleen
24	chr11:72601000-72641200	Weak transcription	HSMMtube	muscle
25	chr11:72601200-72615200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:72601200-72616400	Weak transcription	Adipose Nuclei	Adipose
27	chr11:72601200-72616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:72601200-72617400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:72601200-72617600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:72601200-72617600	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:72601200-72617800	Weak transcription	Fetal Lung	lung
32	chr11:72601200-72619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:72601200-72622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:72601200-72623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:72601200-72623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:72601200-72636000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:72601400-72615200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:72601400-72615200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:72601400-72615600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:72601400-72616200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:72601400-72619400	Weak transcription	Dnd41	blood
42	chr11:72601400-72632400	Weak transcription	Ovary	ovary
43	chr11:72601800-72636000	Weak transcription	Osteobl	bone
44	chr11:72602200-72636800	Weak transcription	Left Ventricle	heart
45	chr11:72605600-72624000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:72607000-72643000	Weak transcription	HSMM	muscle
47	chr11:72607600-72614800	Weak transcription	Brain Anterior Caudate	brain
48	chr11:72607600-72615000	Weak transcription	Primary T cells from cord blood	blood
49	chr11:72607600-72620000	Weak transcription	Placenta	Placenta
50	chr11:72608600-72615400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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