Variant report

Variant	rs2730750
Chromosome Location	chr12:119120726-119120727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10851014	0.96[ASN][1000 genomes]
rs10851016	0.96[ASN][1000 genomes]
rs11069040	0.81[ASN][1000 genomes]
rs11069049	0.96[ASN][1000 genomes]
rs11069051	0.96[ASN][1000 genomes]
rs1520778	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1520785	0.91[EUR][1000 genomes]
rs2002469	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2222335	0.97[ASN][1000 genomes]
rs2249042	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2649960	0.81[AMR][1000 genomes]
rs2682783	0.95[EUR][1000 genomes]
rs2730709	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2730710	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2730717	0.85[ASN][1000 genomes]
rs4238055	0.94[EUR][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1039515	chr12:119085196-119218918	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045363	chr12:119091734-119219659	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv519756	chr12:119092357-119227242	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119118400-119127800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:119118400-119131200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:119118800-119123800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:119119400-119120800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:119119600-119120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:119119800-119120800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:119120400-119120800	Flanking Active TSS	GM12878-XiMat	blood
8	chr12:119120600-119126400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

Quick Search:

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

what's new

Quick links