Variant report

Variant	rs4964378
Chromosome Location	chr12:105864285-105864286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10861431	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1344777	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1918146	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2177938	0.93[ASN][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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899502	chr12:105862964-105904525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105860600-105866200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:105861400-105864400	Enhancers	HSMMtube	muscle
3	chr12:105862600-105865000	Enhancers	HSMM	muscle
4	chr12:105863200-105884200	Weak transcription	Right Atrium	heart
5	chr12:105863800-105864800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:105864000-105864400	ZNF genes & repeats	Fetal Kidney	kidney
7	chr12:105864000-105864600	Enhancers	Fetal Brain Male	brain
8	chr12:105864000-105866800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:105864000-105868400	Weak transcription	NH-A	brain
10	chr12:105864200-105864400	Enhancers	Fetal Heart	heart
11	chr12:105864200-105864400	Flanking Active TSS	HUVEC	blood vessel
12	chr12:105864200-105868200	Weak transcription	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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