Variant report

Variant	rs73044674
Chromosome Location	chr1:186248913-186248914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158397	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1293990	1.00[ASN][1000 genomes]
rs1881444	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55865939	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56077851	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73044618	1.00[AMR][1000 genomes]
rs73046513	1.00[AMR][1000 genomes]
rs73046523	1.00[AMR][1000 genomes]
rs73046524	1.00[AMR][1000 genomes]
rs73046546	1.00[AMR][1000 genomes]
rs73046582	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73048475	1.00[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	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv947342	chr1:186248708-186257519	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186244000-186251600	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr1:186244200-186257000	Weak transcription	Primary T cells from cord blood	blood
3	chr1:186248200-186249000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:186248200-186249000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:186248400-186249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:186248400-186249000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:186248600-186249000	Flanking Active TSS	NHDF-Ad	bronchial
8	chr1:186248600-186249200	Enhancers	Fetal Brain Male	brain

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links