Variant report

Variant	rs72970359
Chromosome Location	chr6:119680833-119680834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17052758	0.81[AMR][1000 genomes]
rs17080943	0.81[AMR][1000 genomes]
rs17588655	0.81[AMR][1000 genomes]
rs1935477	0.81[ASN][1000 genomes]
rs3778107	0.81[AMR][1000 genomes]
rs3798657	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56969807	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57719766	0.81[AMR][1000 genomes]
rs72952938	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72962556	0.81[AMR][1000 genomes]
rs72964499	0.81[AMR][1000 genomes]
rs72968477	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119671800-119689200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:119673400-119690000	Weak transcription	K562	blood
3	chr6:119673600-119687200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:119675200-119688800	Weak transcription	Brain Anterior Caudate	brain
5	chr6:119677000-119681000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:119677000-119686000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:119677000-119691800	Weak transcription	Adipose Nuclei	Adipose
8	chr6:119677600-119681400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr6:119679200-119683200	Enhancers	Dnd41	blood
10	chr6:119679400-119691600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:119680200-119681000	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:119680200-119681400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:119680400-119682800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:119680800-119681000	Enhancers	Primary T cells from cord blood	blood
15	chr6:119680800-119682000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:119680800-119682200	Enhancers	Fetal Heart	heart

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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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