Variant report

Variant	rs793837
Chromosome Location	chr6:24230214-24230215
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1087287	0.84[ASN][1000 genomes]
rs1087288	0.85[ASN][1000 genomes]
rs1087289	0.84[ASN][1000 genomes]
rs1087290	0.85[ASN][1000 genomes]
rs1340697	0.96[ASN][1000 genomes]
rs1770465	0.85[ASN][1000 genomes]
rs1770907	0.96[ASN][1000 genomes]
rs707885	0.83[AFR][1000 genomes]
rs7747779	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7767819	0.95[ASN][1000 genomes]
rs793832	0.85[ASN][1000 genomes]
rs793833	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793836	0.84[ASN][1000 genomes]
rs793838	0.84[ASN][1000 genomes]
rs793841	0.84[ASN][1000 genomes]
rs793842	0.81[ASN][1000 genomes]
rs9460980	0.85[ASN][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	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427746	chr6:24221299-24305709	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs793837	HIST1H2BG	cis	parietal	SCAN
rs793837	HIST1H2AK	cis	parietal	SCAN
rs793837	CMAH	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24206200-24231400	Weak transcription	Fetal Intestine Small	intestine
2	chr6:24214600-24235400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:24217800-24231600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:24227000-24230400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:24228400-24230600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:24228600-24230400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:24228800-24231600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:24228800-24245600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:24229400-24231600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:24229400-24243400	Weak transcription	Fetal Kidney	kidney
11	chr6:24229600-24230400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:24229600-24231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:24229800-24230600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr6:24229800-24234600	Strong transcription	HepG2	liver
15	chr6:24230200-24242400	Weak transcription	Pancreas	Pancrea

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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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