Variant report

Variant	rs55824141
Chromosome Location	chr13:51225317-51225318
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	chr13:51216555..51218966-chr13:51222987..51226274,3	K562	blood:
2	chr13:51216821..51219779-chr13:51224555..51226364,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1268809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1319415	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1641299	0.83[ASN][1000 genomes]
rs55715916	0.83[ASN][1000 genomes]
rs56068061	0.83[ASN][1000 genomes]
rs797473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs797476	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs797480	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs797484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs797513	1.00[AFR][1000 genomes]
rs797514	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs797523	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797524	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797525	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797526	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797527	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797528	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797529	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797530	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs797531	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797533	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797534	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs797535	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs813328	0.93[AFR][1000 genomes];0.83[ASN][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	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription 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	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51220400-51239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:51223800-51227400	Enhancers	Thymus	Thymus
3	chr13:51223800-51227600	Enhancers	Fetal Thymus	thymus
4	chr13:51224200-51225600	Enhancers	Primary T cells from cord blood	blood
5	chr13:51224400-51225400	Enhancers	GM12878-XiMat	blood
6	chr13:51224400-51225600	Enhancers	Primary B cells from peripheral blood	blood
7	chr13:51224600-51225400	Enhancers	Primary B cells from cord blood	blood
8	chr13:51224600-51225600	Enhancers	Fetal Stomach	stomach
9	chr13:51224600-51225600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:51224600-51226600	Enhancers	Fetal Kidney	kidney
11	chr13:51224600-51226800	Enhancers	Fetal Muscle Leg	muscle
12	chr13:51224800-51225600	Enhancers	Primary hematopoietic stem cells	blood
13	chr13:51224800-51225600	Enhancers	Stomach Smooth Muscle	stomach
14	chr13:51224800-51225600	Enhancers	HUVEC	blood vessel
15	chr13:51224800-51226400	Enhancers	Psoas Muscle	Psoas
16	chr13:51224800-51226800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:51225000-51225400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:51225000-51225400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:51225000-51225400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:51225000-51225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:51225000-51225400	Enhancers	Adipose Nuclei	Adipose
22	chr13:51225000-51225400	Enhancers	Left Ventricle	heart
23	chr13:51225000-51225400	Enhancers	Pancreas	Pancrea
24	chr13:51225000-51225400	Bivalent Enhancer	HSMMtube	muscle
25	chr13:51225000-51225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:51225000-51225600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
27	chr13:51225000-51225600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:51225000-51225600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:51225000-51225600	Flanking Active TSS	Dnd41	blood
30	chr13:51225000-51225600	Enhancers	NH-A	brain
31	chr13:51225000-51226800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:51225000-51226800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:51225200-51225400	Enhancers	Colon Smooth Muscle	Colon
34	chr13:51225200-51225400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr13:51225200-51225600	Enhancers	Brain Angular Gyrus	brain
36	chr13:51225200-51225600	Enhancers	Brain Inferior Temporal Lobe	brain

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