Variant report

Variant	rs34044054
Chromosome Location	chr14:85058638-85058639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12050291	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2922636	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3008500	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4899853	0.85[AMR][1000 genomes]
rs67853298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72692347	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72692350	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751288	chr14:84815330-85704047	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1046875	chr14:84993510-85193250	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1052415	chr14:85001891-85078853	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv456354	chr14:85046837-85110699	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv565377	chr14:85046837-85110699	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv902162	chr14:85048957-85131164	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85057000-85058800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr14:85057000-85058800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:85058000-85058800	Enhancers	Fetal Brain Male	brain
4	chr14:85058400-85058800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:85058400-85058800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:85058400-85058800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:85058400-85058800	Enhancers	Aorta	Aorta
8	chr14:85058400-85058800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:85058400-85058800	Enhancers	Ovary	ovary
10	chr14:85058400-85058800	Enhancers	Pancreas	Pancrea
11	chr14:85058400-85058800	Enhancers	Psoas Muscle	Psoas
12	chr14:85058400-85058800	Active TSS	Stomach Smooth Muscle	stomach
13	chr14:85058600-85058800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:85058600-85059200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:85058600-85060200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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