Variant report

Variant	rs55857389
Chromosome Location	chr11:73262113-73262114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12287163	0.81[AFR][1000 genomes]
rs56021202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56045329	0.82[AFR][1000 genomes]
rs56091126	0.89[AMR][1000 genomes]
rs56128908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56172105	0.89[AMR][1000 genomes]
rs56317898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57960575	0.89[AMR][1000 genomes]
rs58602796	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59151156	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104483	0.81[AFR][1000 genomes]
rs7118920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929493	0.89[AMR][1000 genomes]
rs7937197	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
2	chr11:73243800-73263000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:73249600-73266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:73249600-73266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:73249600-73276000	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:73249800-73262600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:73250000-73262200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:73250000-73262600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:73250000-73262600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:73250000-73262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:73250000-73265800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:73250200-73266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:73250200-73278800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:73250800-73262200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:73250800-73265800	Weak transcription	Right Atrium	heart
17	chr11:73250800-73282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:73251000-73265600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:73251000-73288800	Weak transcription	Thymus	Thymus
20	chr11:73251200-73263000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:73251600-73262200	Weak transcription	Right Ventricle	heart
22	chr11:73251600-73262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:73251600-73266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:73253600-73265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:73254000-73262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:73257600-73266000	Weak transcription	Left Ventricle	heart
28	chr11:73258600-73266000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:73258800-73278000	Weak transcription	Primary B cells from cord blood	blood
30	chr11:73259800-73265600	Weak transcription	GM12878-XiMat	blood
31	chr11:73260000-73262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:73260000-73265200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:73260600-73262200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:73260600-73262800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:73260600-73263000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:73260800-73262200	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:73260800-73262200	Weak transcription	K562	blood
38	chr11:73260800-73263200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:73260800-73266000	Weak transcription	Gastric	stomach
40	chr11:73261000-73262800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:73261000-73263000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr11:73261000-73265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:73261400-73262200	Weak transcription	Primary T cells from cord blood	blood
44	chr11:73261400-73262200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:73261800-73262600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:73261800-73263200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:73261800-73263200	Enhancers	Dnd41	blood
48	chr11:73261800-73263400	Enhancers	Brain Substantia Nigra	brain
49	chr11:73262000-73263000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:73262000-73263000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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