Variant report

Variant	rs758782
Chromosome Location	chr12:42361156-42361157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1009721	0.88[AFR][1000 genomes]
rs11118	0.91[AFR][1000 genomes]
rs1233989	1.00[AFR][1000 genomes]
rs1233991	1.00[AFR][1000 genomes]
rs1233993	1.00[AFR][1000 genomes]
rs1234031	1.00[AFR][1000 genomes]
rs1234041	1.00[AFR][1000 genomes]
rs1238283	1.00[AFR][1000 genomes]
rs73280011	1.00[AFR][1000 genomes]
rs824698	0.91[AFR][1000 genomes]
rs824719	0.91[AFR][1000 genomes]
rs824720	0.91[AFR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:42355400-42361400	Weak transcription	Brain Anterior Caudate	brain
2	chr12:42356400-42361400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:42356400-42361600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:42356400-42361600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:42359400-42363000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:42359600-42361400	Weak transcription	Fetal Lung	lung
7	chr12:42359800-42361200	Weak transcription	Fetal Kidney	kidney
8	chr12:42360200-42361400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:42360200-42361400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:42360200-42361400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:42360600-42363000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:42360800-42361800	Enhancers	HUVEC	blood vessel
13	chr12:42361000-42361600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:42361000-42361600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:42361000-42361600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:42361000-42362800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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