Variant report

Variant	rs1957054
Chromosome Location	chr14:39317894-39317895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11625132	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1547051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570167	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957050	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1957052	0.80[EUR][1000 genomes]
rs1957056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957057	0.82[ASW][hapmap];0.84[LWK][hapmap]
rs2415518	0.81[EUR][1000 genomes]
rs2415519	0.81[EUR][1000 genomes]
rs6571877	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7147910	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs762007	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8013494	0.87[EUR][1000 genomes]
rs988419	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39315800-39319000	Enhancers	Brain Substantia Nigra	brain
2	chr14:39316200-39318000	Enhancers	Brain Cingulate Gyrus	brain
3	chr14:39317200-39318200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:39317200-39318600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:39317400-39318400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:39317400-39318600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:39317400-39321400	Weak transcription	Brain Anterior Caudate	brain
8	chr14:39317600-39318600	Enhancers	Primary hematopoietic stem cells	blood
9	chr14:39317600-39321200	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:39317800-39321200	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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