Variant report

Variant	rs34302044
Chromosome Location	chr3:112849289-112849290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12486305	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12495166	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13086237	0.86[AMR][1000 genomes]
rs1795169	0.86[ASN][1000 genomes]
rs1881943	0.81[AFR][1000 genomes]
rs2613954	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34162902	0.88[AMR][1000 genomes]
rs35097816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35728677	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35840548	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36107112	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58152322	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73221996	1.00[ASN][1000 genomes]
rs9288969	0.86[ASN][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112843400-112851200	Weak transcription	NHEK	skin
2	chr3:112846800-112849400	Enhancers	Fetal Stomach	stomach
3	chr3:112847600-112851600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:112847600-112851600	Weak transcription	HSMM	muscle
5	chr3:112847600-112851800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:112847600-112851800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:112847800-112851400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:112847800-112851800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:112848000-112851400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:112848000-112852000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:112848400-112851400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:112848400-112851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:112848600-112851400	Weak transcription	NHDF-Ad	bronchial
15	chr3:112849200-112849400	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:112849200-112850600	Weak transcription	Colon Smooth Muscle	Colon

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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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