Variant report

Variant	rs73116727
Chromosome Location	chr1:239702704-239702705
allele	A/C
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]
rs55810060	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs67065820	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67802170	0.84[ASN][1000 genomes]
rs67978876	0.84[ASN][1000 genomes]
rs73120637	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73120645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73120652	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73120655	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73120656	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73120657	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73120670	0.88[AMR][1000 genomes]
rs73122635	0.88[AMR][1000 genomes]
rs73122647	0.88[AMR][1000 genomes]
rs73122651	1.00[AMR][1000 genomes]
rs73122654	0.87[AMR][1000 genomes]
rs73122657	0.87[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	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239699400-239703200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:239699600-239703600	Enhancers	Colon Smooth Muscle	Colon
3	chr1:239700000-239703000	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr1:239700400-239702800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:239700400-239704000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:239700600-239702800	Enhancers	Ovary	ovary
7	chr1:239700600-239703400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:239700800-239703800	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:239701200-239703000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:239701400-239711800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:239702000-239703000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:239702000-239711600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:239702600-239702800	Enhancers	Pancreas	Pancrea
14	chr1:239702600-239703200	Enhancers	Fetal Muscle Trunk	muscle
15	chr1:239702600-239703400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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