Variant report

Variant	rs56128908
Chromosome Location	chr11:73254227-73254228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73252164..73254240-chr11:73308576..73310454,2	K562	blood:
2	chr11:73253567..73255579-chr11:73268685..73271411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054965	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12146658	0.85[AFR][1000 genomes]
rs12287163	0.86[AFR][1000 genomes]
rs55857389	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56021202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56045329	0.87[AFR][1000 genomes]
rs56091126	0.89[AMR][1000 genomes]
rs56135026	0.85[AFR][1000 genomes]
rs56172105	0.89[AMR][1000 genomes]
rs56317898	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57960575	0.89[AMR][1000 genomes]
rs58602796	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59151156	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59570366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104483	0.86[AFR][1000 genomes]
rs7105000	0.85[AFR][1000 genomes]
rs7118920	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120131	0.85[AFR][1000 genomes]
rs7126544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929493	0.89[AMR][1000 genomes]
rs7932197	0.82[AFR][1000 genomes]
rs7933274	0.85[AFR][1000 genomes]
rs7937197	0.89[AMR][1000 genomes]
rs7945984	0.85[AFR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73240400-73254400	Weak transcription	Stomach Mucosa	stomach
2	chr11:73240600-73255400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
4	chr11:73243800-73263000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:73246200-73256400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:73249600-73266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr11:73249600-73266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:73249600-73276000	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:73249800-73262600	Weak transcription	Brain Anterior Caudate	brain
10	chr11:73250000-73255000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:73250000-73255200	Weak transcription	HSMM	muscle
12	chr11:73250000-73261800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:73250000-73262200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:73250000-73262600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:73250000-73262600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:73250000-73262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:73250000-73265800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:73250200-73266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:73250200-73278800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:73250800-73262200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:73250800-73265800	Weak transcription	Right Atrium	heart
23	chr11:73250800-73282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:73251000-73255200	Weak transcription	GM12878-XiMat	blood
25	chr11:73251000-73265600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:73251000-73288800	Weak transcription	Thymus	Thymus
27	chr11:73251200-73258600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:73251200-73263000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:73251600-73255200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:73251600-73262200	Weak transcription	Right Ventricle	heart
31	chr11:73251600-73262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:73251600-73266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:73252000-73258000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:73252000-73261200	Weak transcription	Dnd41	blood
35	chr11:73252200-73256800	Weak transcription	Left Ventricle	heart
36	chr11:73252600-73254400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:73253600-73265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:73253800-73262000	Weak transcription	Brain Angular Gyrus	brain
39	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:73254000-73254400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:73254000-73255600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:73254000-73256200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:73254000-73262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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