Variant report

Variant	rs56044111
Chromosome Location	chr4:142040841-142040842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:142040362..142042112-chr4:142052827..142054421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170153	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17006871	1.00[AMR][1000 genomes]
rs17006913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17006916	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3897805	0.85[AFR][1000 genomes]
rs57425272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57567945	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849843	1.00[AMR][1000 genomes]
rs73849845	0.87[AFR][1000 genomes]
rs73849846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73849847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7669598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7672823	0.96[AFR][1000 genomes];1.00[AMR][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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142028600-142042400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:142031800-142041800	Weak transcription	Left Ventricle	heart
3	chr4:142037400-142042000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:142038600-142052600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:142038800-142044400	Enhancers	Fetal Heart	heart
6	chr4:142039000-142049200	Weak transcription	Fetal Brain Female	brain
7	chr4:142039200-142041000	Enhancers	Placenta	Placenta
8	chr4:142039400-142043200	Weak transcription	Fetal Stomach	stomach
9	chr4:142039400-142051800	Weak transcription	Aorta	Aorta
10	chr4:142039800-142041800	Weak transcription	Right Atrium	heart
11	chr4:142039800-142045000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:142039800-142045200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:142039800-142045200	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:142040200-142042000	Weak transcription	Right Ventricle	heart
15	chr4:142040400-142041000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:142040400-142041000	Enhancers	Adipose Nuclei	Adipose
17	chr4:142040400-142041000	Enhancers	Psoas Muscle	Psoas
18	chr4:142040400-142041400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:142040400-142042800	Enhancers	Colon Smooth Muscle	Colon
20	chr4:142040600-142041000	Enhancers	Ovary	ovary
21	chr4:142040600-142041000	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:142040600-142041000	Enhancers	Spleen	Spleen
23	chr4:142040600-142042000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:142040600-142042400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:142040800-142041000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:142040800-142041000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr4:142040800-142043600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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