Variant report

Variant	rs16850360
Chromosome Location	chr4:74872445-74872446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10518117	0.85[CEU][hapmap]
rs11574450	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11574452	0.85[CEU][hapmap];0.89[MEX][hapmap];0.83[MKK][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs1435520	0.85[CEU][hapmap]
rs1511815	0.85[CEU][hapmap]
rs1951233	0.85[CEU][hapmap]
rs1957069	0.85[CEU][hapmap]
rs2145614	1.00[CEU][hapmap]
rs2180883	1.00[CEU][hapmap]
rs3111693	1.00[CEU][hapmap]
rs3117602	1.00[CEU][hapmap]
rs353042	0.85[CEU][hapmap]
rs3756074	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6813952	0.81[TSI][hapmap]

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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Metabolite levels	22916037	GWAS catalog

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74864600-74876600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:74870000-74873200	Enhancers	HMEC	breast
3	chr4:74870200-74872800	Enhancers	NHEK	skin
4	chr4:74870200-74873200	Enhancers	Hela-S3	cervix
5	chr4:74870400-74880600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:74870600-74873800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:74870600-74874600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:74870600-74881800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:74870800-74872600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:74871200-74873200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:74871400-74872800	Enhancers	Osteobl	bone
12	chr4:74871600-74873400	Enhancers	HSMM	muscle
13	chr4:74871600-74881200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:74871800-74872600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:74871800-74873400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:74872200-74873000	Enhancers	A549	lung
17	chr4:74872200-74877400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:74872400-74876600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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