Variant report

Variant	rs6938554
Chromosome Location	chr6:147401654-147401655
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1574218	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1997339	1.00[EUR][1000 genomes]
rs58300191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58350636	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58638848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59728921	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6902096	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6908011	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6915106	0.82[ASN][1000 genomes]
rs6917200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6925324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73574490	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73576361	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73588107	0.86[ASN][1000 genomes]
rs73590023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73590053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73590056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9497697	1.00[EUR][1000 genomes];0.97[ASN][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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr6:147398800-147401800	Weak transcription	Pancreas	Pancrea
2	chr6:147398800-147403800	Weak transcription	Gastric	stomach
3	chr6:147399200-147402200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:147399400-147402200	Weak transcription	Stomach Mucosa	stomach
5	chr6:147400000-147402200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:147400000-147402200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:147401200-147402200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:147401200-147402800	Enhancers	Fetal Intestine Large	intestine
9	chr6:147401400-147402000	Enhancers	Placenta	Placenta
10	chr6:147401400-147402400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:147401400-147402800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:147401400-147403000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:147401400-147403200	Enhancers	NHEK	skin
14	chr6:147401600-147402000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:147401600-147402000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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