Variant report

Variant	rs6604673
Chromosome Location	chr1:221991112-221991113
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11118867	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11580087	1.00[CEU][hapmap]
rs12067828	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12090179	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17010904	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59632580	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60129776	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73112693	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv873201	chr1:221956626-222007535	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221984600-221997200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:221985800-221991200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:221989600-221991600	Enhancers	HMEC	breast
5	chr1:221989800-221991200	Enhancers	NHDF-Ad	bronchial
6	chr1:221989800-221991600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:221990000-221991200	Enhancers	NHLF	lung
8	chr1:221990000-221991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:221990000-221991600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr1:221990400-221991200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:221990600-221995200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:221990600-222000200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:221990800-221996600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:221991000-221991200	Weak transcription	NH-A	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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