Variant report

Variant	rs73849846
Chromosome Location	chr4:142062099-142062100
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
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]
rs56044111	1.00[AFR][1000 genomes];1.00[AMR][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]
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:2 , 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
2	nsv880170	chr4:142046828-142137165	Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142056600-142063600	Weak transcription	Left Ventricle	heart
2	chr4:142060000-142063000	Enhancers	Fetal Muscle Leg	muscle
3	chr4:142061200-142063400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:142061200-142065200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:142061400-142062200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:142061400-142062600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr4:142061600-142062400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:142061800-142062200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:142061800-142062200	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:142061800-142062200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr4:142061800-142062200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr4:142061800-142062200	Enhancers	Fetal Stomach	stomach
13	chr4:142061800-142062400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:142061800-142062400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:142061800-142062400	Enhancers	HSMM	muscle
16	chr4:142061800-142062600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:142062000-142062400	Enhancers	Fetal Heart	heart
18	chr4:142062000-142062400	Enhancers	Rectal Smooth Muscle	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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