Variant report

Variant	rs4380795
Chromosome Location	chr6:119797568-119797569
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17081391	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17081398	0.86[ASN][1000 genomes]
rs17081419	0.83[ASN][1000 genomes]
rs17081425	0.83[ASN][1000 genomes]
rs1891381	0.92[ASN][1000 genomes]
rs2102041	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58463004	0.88[ASN][1000 genomes]
rs60160971	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60275416	0.84[ASN][1000 genomes]
rs6931728	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72952938	0.83[ASN][1000 genomes]
rs72954938	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72957070	0.83[ASN][1000 genomes]
rs7341225	0.85[ASN][1000 genomes]
rs7740164	0.92[ASN][1000 genomes]
rs7744432	0.83[ASN][1000 genomes]
rs7756350	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv5455	chr6:119794976-119839636	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119792800-119800000	Weak transcription	K562	blood
2	chr6:119796800-119798200	Enhancers	GM12878-XiMat	blood
3	chr6:119797200-119798800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:119797400-119797600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:119797400-119797600	Enhancers	Spleen	Spleen
6	chr6:119797400-119797800	Enhancers	Adipose Nuclei	Adipose
7	chr6:119797400-119797800	Enhancers	Ovary	ovary
8	chr6:119797400-119798200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:119797400-119798200	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:119797400-119798200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:119797400-119798400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:119797400-119798600	Enhancers	Colon Smooth Muscle	Colon

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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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