Variant report

Variant	rs4143905
Chromosome Location	chr14:39309751-39309752
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17108417	0.89[ASN][1000 genomes]
rs17108419	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7142347	0.92[ASN][1000 genomes]
rs73277180	0.92[ASN][1000 genomes]
rs73281354	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054457	chr14:39114181-39317483	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39305800-39310800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:39305800-39311800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:39306000-39312000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:39306200-39311400	Enhancers	Hela-S3	cervix
5	chr14:39308000-39310600	Enhancers	Primary hematopoietic stem cells	blood
6	chr14:39308200-39311600	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:39308200-39313200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:39308400-39311600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:39308600-39309800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:39308600-39309800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:39308600-39309800	Enhancers	Fetal Intestine Large	intestine
12	chr14:39308600-39309800	Flanking Active TSS	HUVEC	blood vessel
13	chr14:39308800-39309800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:39308800-39309800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:39309000-39309800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:39309000-39310200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:39309400-39310600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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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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