Variant report

Variant	rs2649960
Chromosome Location	chr12:119119035-119119036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2002469	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2249042	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2649959	0.81[EUR][1000 genomes]
rs2730709	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2730710	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2730717	0.87[AMR][1000 genomes]
rs2730750	0.81[AMR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119118000-119119200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119118000-119120400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:119118200-119119200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:119118400-119119200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:119118400-119127800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:119118400-119131200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:119118600-119119600	Weak transcription	GM12878-XiMat	blood
8	chr12:119118600-119119800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:119118600-119119800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:119118800-119119800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:119118800-119123800	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:119119000-119119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:119119000-119119400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:119119000-119119400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:119119000-119119800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:119119000-119120000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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