Variant report

Variant	rs62418972
Chromosome Location	chr6:119950323-119950324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11962855	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964233	0.83[AMR][1000 genomes]
rs11965272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11970208	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56182614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60410454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62418973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419004	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419008	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419009	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419010	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419013	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419018	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62419039	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62419043	1.00[EUR][1000 genomes]
rs6908018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489764	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1027370	chr6:119869409-120056608	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538431	chr6:119869409-120056608	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119947800-119950800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:119948000-119951200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:119948400-119950400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:119948400-119951400	Enhancers	NHEK	skin
5	chr6:119948400-119951600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:119948600-119950600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:119948600-119951400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:119948800-119950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:119949000-119951000	Enhancers	Stomach Mucosa	stomach
10	chr6:119949200-119950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:119949200-119950600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:119949400-119950400	Weak transcription	Pancreas	Pancrea
13	chr6:119949600-119950800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:119949800-119950800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:119949800-119951600	Enhancers	K562	blood
16	chr6:119950000-119950600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:119950000-119958000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:119950000-119968600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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