Variant report

Variant	rs10187048
Chromosome Location	chr2:125282454-125282455
allele	C/T
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:6)

rs_ID	r²[population]
rs10197685	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612022	0.86[ASN][1000 genomes]
rs13015323	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4848243	0.85[ASN][1000 genomes]
rs6541958	0.85[ASN][1000 genomes]
rs882950	0.89[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	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834355	chr2:125128585-125291043	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834356	chr2:125141494-125315418	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834357	chr2:125258157-125421507	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125279200-125284200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:125279600-125282600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:125280000-125290600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:125280800-125282600	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:125281000-125284200	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:125281800-125282600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:125281800-125282600	Enhancers	Brain Angular Gyrus	brain
8	chr2:125281800-125282600	Enhancers	Brain Anterior Caudate	brain
9	chr2:125281800-125282600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:125281800-125282600	Enhancers	Gastric	stomach
11	chr2:125281800-125282600	Enhancers	Lung	lung
12	chr2:125281800-125282600	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:125281800-125282600	Enhancers	Right Atrium	heart
14	chr2:125281800-125284600	Enhancers	Fetal Stomach	stomach
15	chr2:125282000-125282600	Enhancers	Colon Smooth Muscle	Colon
16	chr2:125282000-125282600	Enhancers	Left Ventricle	heart
17	chr2:125282200-125282600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:125282400-125282600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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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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